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
ENSP00000263036.3:p.Val388Leu	CA376029581 ENST00000263036.9:c.1162G>C CA376029582 ENST00000263036.9:c.1162G>T