Allele Registry

Canonical Allele Identifier: PA2826106233

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

177164

ClinVar RCV:

RCV000693394

RCV000723815

RCV002362804

ClinVar Variation:

166765

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Arg2168His	CA233565 NM_001174080.2:c.6503G>A