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
NP_001008213.1:p.Glu483Asp	CA376030253 NM_001008212.2:c.1449G>C CA376030254 NM_001008212.2:c.1449G>T