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
ENSP00000402758.2:p.Leu389Pro
ENST00000449260.6:c.1166T>C