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
ENSP00000447374.1:p.Lys622Asn	CA385214822 ENST00000548493.5:c.1866G>T CA385214823 ENST00000548493.5:c.1866G>C