Allele Registry

Canonical Allele Identifier: PA277239

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000193991

RCV001857689

RCV002517916

RCV003227709

ClinVar Variation:

210418

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Gly727Arg	CA277238 NM_000052.7:c.2179G>A CA413598602 NM_000052.7:c.2179G>C