Allele Registry

Canonical Allele Identifier: PA256076

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000012561

RCV000789727

RCV001696175

ClinVar Variation:

11794

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Thr994Ile	CA256075 NM_000052.7:c.2981C>T