Allele Registry

Canonical Allele Identifier: PA2580104331

Gene: CACNA1S HGNC NCBI

ClinVar RCV:

RCV003080081

RCV004009412

ClinVar Variation:

2166438

HGVS (amino-acid)	Matching Registered Transcripts
NP_000060.2:p.Arg1239Cys	CA344154758 NM_000069.3:c.3715C>T