Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: OPTN HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005252393.2:p.Lys478Asn	CA376030261 XM_005252336.2:c.1434A>C CA376030262 XM_005252336.2:c.1434A>T