ClinvarCanonicalAllele¶

Trial Use

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the GKS Maturity Model.

A ClinVar canonical allele — the most common variant type. ClinVar identifies each variation by mapping submitted attributes to a GRCh38 genomic allele, which becomes the defining allele constraint. Carries ClinVar-specific extensions (HGVS list, gene list, cytogenetic location, variation type, etc.) alongside the Cat-VRS CanonicalAllele structure.

JSON Schema: ClinvarCanonicalAllele

Some ClinvarCanonicalAllele attributes are inherited from CanonicalAllele, ClinvarCanonicalAlleleProperties, ClinvarCategoricalVariantProperties.

Information Model¶

Field	Type	Limits	Description
`id`	`string`	0..1	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.
`name`	`string`	0..1	A primary name for the entity.
`description`	`string`	0..1	A free-text description of the Entity.
`aliases`	`string`[] (unordered)	0..m	Alternative name(s) for the Entity.
`extensions`	`Extension`[] (unordered)	0..m	ClinVar-specific metadata. See Variations — Extensions for the complete list of extension names, value types, and custom type definitions.
`type`	`string`	0..1	MUST be "CategoricalVariant"
`members`	`iriReference` \| `ClinvarAllele`[] (unordered)	0..m	A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
`constraints`	`DefiningAlleleConstraint`[] (unordered)	0..m	Defining constraints linking this variant to its resolved VRS allele. Contains a `DefiningAlleleConstraint` with an `allele` reference to `#/allele/{id}`. See Variations — Constraints.
`mappings`	`ConceptMapping`[] (unordered)	0..m	A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.