Allele Registry

Canonical Allele Identifier: PA241163

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000175409

RCV000210670

RCV000432960

RCV000660566

RCV001080527

RCV001251922

RCV003985285

ClinVar Variation:

194928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Glu1015Lys	CA241161 NM_001127221.2:c.3043G>A