Allele Registry

Canonical Allele Identifier: PA916012645

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000430636

RCV001454784

ClinVar Variation:

392682

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Glu544Gln	CA10459074 NM_001282224.2:c.1630G>C