Allele Registry

Canonical Allele Identifier: PA916070839

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000444802

RCV001224501

ClinVar Variation:

383246

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg2250His	CA16608108 NM_023035.3:c.6749G>A