Allele Registry

Canonical Allele Identifier: PA916012695

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000541241

RCV000608309

ClinVar Variation:

465109

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Glu691Lys	CA331096924 NM_001282224.2:c.2071G>A