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
ENSP00000450036.1:p.Phe539Leu
CA385214798
ENST00000550464.5:c.1617C>G
CA385214799
ENST00000550464.5:c.1617C>A
CA385214804
ENST00000550464.5:c.1615T>C