Allele Registry

Canonical Allele Identifier: PA658668867

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000553225

RCV002289769

ClinVar Variation:

476276

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Gly230Ser	CA404348567 NM_001127221.2:c.688G>A