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
NP_001186982.1:p.Thr282Ser	CA385217300 NM_001200053.1:c.845C>G CA385217307 NM_001200053.1:c.844A>T