Allele Registry

Canonical Allele Identifier: PA145677

Gene: ATP7B HGNC NCBI

ClinVar Allele:

44372

ClinVar RCV:

RCV000029357

RCV000078044

RCV001357476

RCV002433468

ClinVar Variation:

35708

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Arg952Lys	CA145676 NM_000053.4:c.2855G>A