Allele Registry

Canonical Allele Identifier: PA916012627

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV001241257

RCV001696820

RCV001835828

RCV003424044

ClinVar Variation:

429718

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Pro462Ala	CA10459044 NM_001282224.2:c.1384C>G