Allele Registry

Canonical Allele Identifier: PA916070053

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000559097

RCV000996789

RCV001253187

RCV002318451

RCV003224277

RCV003985339

ClinVar Variation:

385136

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Ala1080Val	CA9240384 NM_023035.3:c.3239C>T