Allele Registry

Canonical Allele Identifier: PA207982

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

208540

ClinVar RCV:

RCV000194067

RCV000764184

RCV001289293

RCV003765213

ClinVar Variation:

210556

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Arg198Gln	CA207980 NM_001127221.2:c.593G>A