Allele Registry

Canonical Allele Identifier: PA2826317583

Gene: ATP7B HGNC NCBI

ClinVar Allele:

409037

ClinVar RCV:

RCV000587060

RCV000631248

RCV001263514

RCV002525825

ClinVar Variation:

420002

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230111.1:p.Leu530Ser	CA6989172 NM_001243182.2:c.1589T>C