Allele Registry

Canonical Allele Identifier: PA916070673

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000732133

RCV000764175

RCV001087818

RCV002311805

RCV003985362

ClinVar Variation:

421988

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg2175Cys	CA9239341 NM_023035.3:c.6523C>T