Allele Registry

Canonical Allele Identifier: PA2825599020

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000484344

RCV001049031

RCV002525881

RCV003985360

ClinVar Variation:

421775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120694.1:p.Glu2254Gln	CA9239269 NM_001127222.2:c.6760G>C