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
ENSP00000368021.3:p.Glu483Asp
CA376030253
ENST00000378747.8:c.1449G>C
CA376030254
ENST00000378747.8:c.1449G>T