{ "$schema": "https://json-schema.org/draft/2020-12/schema", "$id": "https://w3id.org/ga4gh/schema/vrs/2.0.0/json/Allele", "title": "Allele", "type": "object", "maturity": "trial use", "ga4gh": { "prefix": "VA", "inherent": [ "location", "state", "type" ] }, "description": "The state of a molecule at a Location.", "properties": { "id": { "type": "string", "description": "The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.", "$comment": "Note that it is common for implementers to create their own internal logical ids - typically a serially or randomly generated value like a UUID that is assigned to the data object as it is created in a system. But an implementer may choose to re-use an existing, globally unique id from an external system or authority for this purpose (e.g. an HGNC id for a Gene object) - as long as it is unique within the implementing system, and can be used to reference the identified object in this context." }, "name": { "type": "string", "description": "A primary name for the entity." }, "description": { "type": "string", "description": "A free-text description of the Entity." }, "aliases": { "type": "array", "ordered": false, "items": { "type": "string" }, "description": "Alternative name(s) for the Entity." }, "extensions": { "type": "array", "ordered": false, "items": { "$ref": "/ga4gh/schema/gks-core/1.0.0/json/Extension" }, "description": "A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model.", "$comment": "Extension objects have a key-value data structure that allows definition of custom fields in the data itself. Extensions are not expected to be natively understood, but may be used for pre-negotiated exchange of message attributes between systems." }, "digest": { "description": "A sha512t24u digest created using the VRS Computed Identifier algorithm.", "type": "string", "pattern": "^[0-9A-Za-z_\\-]{32}$" }, "expressions": { "type": "array", "ordered": false, "items": { "$ref": "/ga4gh/schema/vrs/2.0.0/json/Expression" } }, "type": { "type": "string", "const": "Allele", "default": "Allele", "description": "MUST be \"Allele\"" }, "location": { "oneOf": [ { "$ref": "/ga4gh/schema/vrs/2.0.0/json/SequenceLocation" }, { "$ref": "/ga4gh/schema/gks-core/1.0.0/json/iriReference" } ], "description": "The location of the Allele" }, "state": { "description": "An expression of the sequence state", "oneOf": [ { "$ref": "/ga4gh/schema/vrs/2.0.0/json/LengthExpression" }, { "$ref": "/ga4gh/schema/vrs/2.0.0/json/LiteralSequenceExpression" }, { "$ref": "/ga4gh/schema/vrs/2.0.0/json/ReferenceLengthExpression" } ] } }, "required": [ "location", "state", "type" ], "additionalProperties": false }