Allele Registry

Canonical Allele Identifier: PA645449823

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

426283

ClinVar RCV:

RCV000653344

RCV001707709

RCV002367677

ClinVar Variation:

432563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Pro2221His	CA305547478 NM_001127221.2:c.6662C>A