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.Leu544Phe	CA385214767 NM_001200053.1:c.1632G>T CA385214768 NM_001200053.1:c.1632G>C