Allele Registry

Canonical Allele Identifier: PA254472

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000009026

RCV001533162

RCV002333469

ClinVar Variation:

8503

1740050

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Val1459Leu	CA254466 NM_023035.3:c.4375G>T CA404339249 NM_023035.3:c.4375G>C