Allele Registry

Canonical Allele Identifier: PA2829738827

Gene: ATP2C1 HGNC NCBI

ClinVar RCV:

RCV000005928

ClinVar Variation:

5586

HGVS (amino-acid)	Matching Registered Transcripts
NP_055197.2:p.Cys490Phe	CA117626 NM_014382.5:c.1469G>T