Allele Registry

Canonical Allele Identifier: PA2826638092

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000012561

RCV000789727

RCV001696175

ClinVar Variation:

11794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Thr916Ile	CA256075 NM_001282224.2:c.2747C>T