Allele Registry

Canonical Allele Identifier: PA658669104

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000521823

RCV001858044

RCV003458453

ClinVar Variation:

452992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Ser2193Leu	CA404330599 NM_001127221.2:c.6578C>T