Allele Registry

Canonical Allele Identifier: PA118634

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007516

RCV000007517

RCV000177328

RCV000269750

RCV000324769

RCV001512340

RCV001705584

RCV002490331

ClinVar Variation:

7099

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Met98Lys	CA118632 NM_021980.4:c.293T>A