Allele Registry

Canonical Allele Identifier: PA317271

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188882

RCV001060321

RCV002408846

ClinVar Variation:

206776

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg605Thr	CA317269 NM_001165963.4:c.1814G>C