Allele Registry

Canonical Allele Identifier: PA2825290480

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV002988839

ClinVar Variation:

2078827

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008214.1:p.Met65Thr	CA376027358 NM_001008213.1:c.194T>C