Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826857307

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478590

ClinVar RCV Id: RCV001998656

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Ala663Val	CA7438780 NM_001300984.2:c.1988C>T