Allele Registry

Canonical Allele Identifier: PA645499370

Gene: ATP7A HGNC NCBI

ClinVar Allele:

379549

ClinVar RCV:

RCV000444044

RCV001508048

RCV001833557

RCV001861618

RCV002402192

ClinVar Variation:

389461

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Thr574Met	CA10459093 NM_000052.7:c.1721C>T