Allele Registry

Canonical Allele Identifier: PA2826106388

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000444802

RCV001224501

ClinVar Variation:

383246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Arg2247His	CA16608108 NM_001174080.2:c.6740G>A