Allele Registry

Canonical Allele Identifier: PA916070383

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000547039

RCV000622365

RCV001731780

ClinVar Variation:

476264

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Gly1760Arg	CA404334921 NM_023035.3:c.5278G>A CA404334925 NM_023035.3:c.5278G>C