Allele Registry

Canonical Allele Identifier: PA2826252747

Gene: PMEL HGNC NCBI

ClinVar RCV:

RCV000948397

ClinVar Variation:

769389

HGVS (amino-acid)	Matching Registered Transcripts
NP_001186982.1:p.Glu284Asp	CA6620070 NM_001200053.1:c.852G>C CA385217279 NM_001200053.1:c.852G>T