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: PA2573167211

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478590

ClinVar RCV Id: RCV001998656

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Ala687Val	CA7438780 NM_000275.3:c.2060C>T