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.Gln574del	CA385214578 ENST00000550464.5:c.1720C>T CA385214586 ENST00000550464.5:c.1717C>T