Allele Registry

Canonical Allele Identifier: PA2825290474

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007513

ClinVar Variation:

7096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008214.1:p.Glu50Lys	CA118628 NM_001008213.1:c.148G>A