Allele Registry

Canonical Allele Identifier: PA2825014114

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV001368839

RCV001704385

ClinVar Variation:

387200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000059.3:p.Pro2227Leu	CA9239296 NM_000068.4:c.6680C>T