Allele Registry

Canonical Allele Identifier: PA645499536

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000235979

RCV002518435

ClinVar Variation:

245881

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Arg986Gln	CA10459363 NM_000052.7:c.2957G>A