Allele Registry

Canonical Allele Identifier: PA2826106239

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000732133

RCV000764175

RCV001087818

RCV002311805

RCV003985362

ClinVar Variation:

421988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Arg2172Cys	CA9239341 NM_001174080.2:c.6514C>T