Allele Registry

Canonical Allele Identifier: PA104050

Gene: OCA2 HGNC NCBI

ClinVar RCV:

RCV000001009

RCV001851522

RCV003466773

ClinVar Variation:

958

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Ala334Val	CA251637 NM_000275.3:c.1001C>T