Allele Registry

Canonical Allele Identifier: PA658674611

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000541241

RCV000608309

ClinVar Variation:

465109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Glu691Lys	CA331096924 NM_000052.7:c.2071G>A