Allele Registry

Canonical Allele Identifier: PA645449389

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

376273

ClinVar RCV:

RCV000559097

RCV000996789

RCV001253187

RCV002318451

RCV003224277

RCV003985339

ClinVar Variation:

385136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Ala1077Val	CA9240384 NM_001127221.2:c.3230C>T