Allele Registry

Canonical Allele Identifier: PA916012733

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000484292

RCV001265560

ClinVar Variation:

423830

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Thr968Ile	CA16621511 NM_001282224.2:c.2903C>T