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
NP_001008214.1:p.Leu386Phe
CA376029572
NM_001008213.1:c.1158A>C
CA376029573
NM_001008213.1:c.1158A>T