Allele Registry

Canonical Allele Identifier: PA2826104129

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000009020

RCV000059293

RCV001533161

ClinVar Variation:

8497

68423

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Asp715Glu	CA254440 NM_001174080.2:c.2145C>A CA266040 NM_001174080.2:c.2145C>G