Allele Registry

Canonical Allele Identifier: PA2827773047

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188874

RCV000585879

RCV001857646

RCV002399702

ClinVar Variation:

206770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Arg535His	CA317245 NM_001353952.2:c.1604G>A