Allele Registry

Canonical Allele Identifier: PA2827040970

Gene: PMEL HGNC NCBI

ClinVar RCV:

RCV000948397

ClinVar Variation:

769389

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307050.1:p.Glu370Asp	CA6620070 NM_001320121.1:c.1110G>C CA385217279 NM_001320121.1:c.1110G>T