Allele Registry

Canonical Allele Identifier: PA645449826

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV001368839

RCV001704385

ClinVar Variation:

387200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Pro2222Leu	CA9239296 NM_001127221.2:c.6665C>T