ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Variant identifier.

Alternative Prefixes
clinvar.variant clinvar.variation
biomedical science clinical studies genomics preclinical studies
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ClinVar Variation should match this regular expression:

Example Local Unique Identifier
12345   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Variation should match this regular expression:

Example CURIE
2013 ClinVar: public archive of relationships among sequence variation and human phenotype

A summary of the relations in the Bioregistry schema can be found here.

Has Parts (bfo:0000051 )
In Collection
FHIR External Terminologies
Metaregistry ClinVar Variation

The metaregistry provides mappings between the Bioregistry and other registries. There are 11 mappings to external registries for this resource with 7 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext ClinVarVariant
Biolink Biolink Model Registry logo biolink CLINVAR
Cellosaurus Cellosaurus Registry logo cellosaurus ClinVar
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.wx5r6f
HL7 HL7 External Code Systems logo hl7 2.16.840.1.113883.6.319
Integbio Integbio logo integbio nbdc01514 logo miriam clinvar
N2T Name-to-Thing logo n2t clinvar
re3data Registry of Research Data Repositories logo re3data r3d100013331
TogoID togoid Clinvar
Wikidata Wikidata Property logo wikidata P1929

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 12345 is used to demonstrate the providers available for ClinVar Variation. A guide for curating additional providers can be found here.

Name Metaprefix URI
ClinVar Variation clinvar
Bioregistry bioregistry miriam
Name-to-Thing n2t