Allele Registry

Canonical Allele Identifier: PA916069819

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000009028

RCV000009029

RCV000009030

RCV000517519

RCV001380080

RCV001533158

RCV002227018

ClinVar Variation:

8505

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg583Gln	CA119653 NM_023035.3:c.1748G>A