Allele Registry

Canonical Allele Identifier: PA916069583

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000440690

RCV000558866

ClinVar Variation:

384320

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Val176Leu	CA16608963 NM_023035.3:c.526G>C CA404967426 NM_023035.3:c.526G>T