Allele Registry

Canonical Allele Identifier: PA658802245

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000640895

RCV001508046

RCV002388073

ClinVar Variation:

533673

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Pro462Leu	CA10459045 NM_000052.7:c.1385C>T