Allele Registry

Canonical Allele Identifier: PA254461

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000009023

ClinVar Variation:

8500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Glu1758Lys	CA254457 NM_001174080.2:c.5272G>A