Allele Registry

Canonical Allele Identifier: PA916012653

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000615428

RCV001755993

RCV003767739

ClinVar Variation:

517141

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Val597Met	CA10459109 NM_001282224.2:c.1789G>A