Allele Registry

Canonical Allele Identifier: PA2826318289

Gene: ATP7B HGNC NCBI

ClinVar Allele:

186884

ClinVar RCV:

RCV000169188

RCV001596981

RCV003422061

ClinVar Variation:

188839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230111.1:p.Arg1040Cys	CA274020 NM_001243182.2:c.3118C>T