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: PMEL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448849.1:p.Glu316Asp
CA6620070
ENST00000547137.5:c.948G>C
CA385217279
ENST00000547137.5:c.948G>T