Allele Registry

Canonical Allele Identifier: PA916012648

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000385771

RCV001859571

ClinVar Variation:

282998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Thr574Arg	CA10459092 NM_001282224.2:c.1721C>G