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
ENSP00000448828.1:p.Gln623His	CA385214814 ENST00000548747.6:c.1869A>T CA385214815 ENST00000548747.6:c.1869A>C