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
ENSP00000450036.1:p.Gln543His	CA385214774 ENST00000550464.5:c.1629G>T CA385214775 ENST00000550464.5:c.1629G>C