Allele Registry

Canonical Allele Identifier: PA2825226729

Gene: ATP2C1 HGNC NCBI

ClinVar RCV:

RCV000005928

ClinVar Variation:

5586

HGVS (amino-acid)	Matching Registered Transcripts
NP_001001485.1:p.Cys490Phe	CA117626 NM_001001485.3:c.1469G>T