Allele Registry

Canonical Allele Identifier: PA916070769

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

426283

ClinVar RCV:

RCV000653344

RCV001707709

RCV002367677

ClinVar Variation:

432563

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Pro2226His	CA305547478 NM_023035.3:c.6677C>A