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) Transcript change
ENSP00000448849.1:p.Leu335Pro
ENST00000547137.5:c.1004T>C