Allele Registry

Canonical Allele Identifier: PA254501

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000009039

RCV000516653

ClinVar Variation:

8513

HGVS (amino-acid)	Matching Registered Transcripts
NP_000059.3:p.Arg1349Gln	CA254496 NM_000068.4:c.4046G>A