Allele Registry

Canonical Allele Identifier: PA645449748

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000732133

RCV000764175

RCV001087818

RCV002311805

RCV003985362

ClinVar Variation:

421988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Arg2170Cys	CA9239341 NM_001127221.2:c.6508C>T