Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000447374.1:p.Ser371Arg	CA385217266 ENST00000548493.5:c.1113C>G CA385217267 ENST00000548493.5:c.1113C>A CA385217277 ENST00000548493.5:c.1111A>C