Allele Registry

Canonical Allele Identifier: PA916070488

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

360387

ClinVar RCV:

RCV000413632

RCV000727526

RCV000791501

RCV002275037

RCV002524653

ClinVar Variation:

373509

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg1988Gln	CA9239519 NM_023035.3:c.5963G>A