Allele Registry

Canonical Allele Identifier: PA241910

Gene: CACNA1A HGNC NCBI

ClinVar RCV:

RCV000176046

RCV000724751

RCV001048020

ClinVar Variation:

195470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Val1147Ile	CA241908 NM_001127221.2:c.3439G>A