Allele Registry

Canonical Allele Identifier: PA2826638230

Gene: ATP7A HGNC NCBI

ClinVar Allele:

26834

ClinVar RCV:

RCV000012562

RCV000789728

RCV001206423

RCV001696176

ClinVar Variation:

11795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Pro1308Ser	CA256077 NM_001282224.2:c.3922C>T