Allele Registry

Canonical Allele Identifier: PA2826857341

Gene: OCA2 HGNC NCBI

ClinVar RCV:

RCV000176150

RCV000192656

RCV000724171

RCV003407649

RCV003468858

ClinVar Variation:

195557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Ser712Leu	CA242025 NM_001300984.2:c.2135C>T