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
ENSP00000368027.3:p.Leu398Phe	CA376029697 ENST00000378752.7:c.1194G>C CA376029698 ENST00000378752.7:c.1194G>T