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
ENSP00000368027.3:p.Glu283Asp
CA5410767
ENST00000378752.7:c.849G>C
CA376028878
ENST00000378752.7:c.849G>T