Allele Registry

Canonical Allele Identifier: PA916070294

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000480159

RCV001264726

RCV001542801

RCV001643203

RCV001856860

RCV002227168

ClinVar Variation:

422063

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Asp1647Asn	CA16620781 NM_023035.3:c.4939G>A