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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000368032.2:p.Phe475Leu
CA376030195
ENST00000378757.6:c.1423T>C
CA376030201
ENST00000378757.6:c.1425T>A
CA376030202
ENST00000378757.6:c.1425T>G