Allele Registry

Canonical Allele Identifier: PA916070563

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

415625

ClinVar RCV:

RCV000488982

RCV000624453

RCV001364368

ClinVar Variation:

426943

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg2074Gln	CA9239431 NM_023035.3:c.6221G>A