Allele Registry

Canonical Allele Identifier: PA916012582

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000439170

RCV001828426

ClinVar Variation:

387402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Thr93Arg	CA16608598 NM_001282224.2:c.278C>G