Allele Registry

Canonical Allele Identifier: PA916070672

Gene: CACNA1A HGNC NCBI

ClinVar Allele:

177164

ClinVar RCV:

RCV000693394

RCV000723815

RCV002362804

ClinVar Variation:

166765

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Arg2171His	CA233565 NM_023035.3:c.6512G>A