Allele Registry

Canonical Allele Identifier: PA2825290603

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000873017

RCV001085799

ClinVar Variation:

703420

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008214.1:p.Glu322Lys	CA203267440 NM_001008213.1:c.964G>A