Allele Registry

Canonical Allele Identifier: PA645449870

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000260147

RCV001044457

RCV003235180

RCV004021263

ClinVar Variation:

288783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Ala2258Val	CA9239268 NM_001127221.2:c.6773C>T