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
ENSP00000447374.1:p.Phe625Leu
CA385214798
ENST00000548493.5:c.1875C>G
CA385214799
ENST00000548493.5:c.1875C>A
CA385214804
ENST00000548493.5:c.1873T>C