Allele Registry

Canonical Allele Identifier: PA645448303

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000240888

RCV000255263

RCV000623106

RCV000763034

RCV001380078

RCV001814128

RCV002227102

RCV002274954

ClinVar Variation:

254268

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Ala713Thr	CA10586394 NM_023035.3:c.2137G>A