Allele Registry

Canonical Allele Identifier: PA916012575

Gene: ATP7A HGNC NCBI

ClinVar Allele:

446781

ClinVar RCV:

RCV000521317

RCV003766966

ClinVar Variation:

452221

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Ala48Thr	CA413598781 NM_001282224.2:c.142G>A