Allele Registry

Canonical Allele Identifier: PA916070490

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000694727

RCV000991680

RCV002525162

ClinVar Variation:

450300

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Thr2002Ala	CA9239514 NM_023035.3:c.6004A>G