Allele Registry

Canonical Allele Identifier: PA916019078

Gene: OCA2 HGNC NCBI

ClinVar RCV:

RCV000001009

RCV001851522

RCV003466773

ClinVar Variation:

958

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Ala334Val	CA251637 NM_001300984.2:c.1001C>T