Allele Registry

Canonical Allele Identifier: PA2825290243

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007516

RCV000007517

RCV000177328

RCV000269750

RCV000324769

RCV001512340

RCV001705584

RCV002490331

ClinVar Variation:

7099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.Met98Lys	CA118632 NM_001008212.2:c.293T>A