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
ENSP00000446662.1:p.Val283Ile
ENST00000546543.5:c.847G>A