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
ENSP00000447732.1:p.Ser222Arg	CA385217266 ENST00000548803.5:c.666C>G CA385217267 ENST00000548803.5:c.666C>A CA385217277 ENST00000548803.5:c.664A>C