Allele Registry

Canonical Allele Identifier: PA916012702

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000194586

ClinVar Variation:

210416

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Gln724His	CA277346 NM_001282224.2:c.2172G>T CA413598574 NM_001282224.2:c.2172G>C