Allele Registry

Canonical Allele Identifier: PA916070772

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV001368839

RCV001704385

ClinVar Variation:

387200

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Pro2227Leu	CA9239296 NM_023035.3:c.6680C>T