Allele Registry

Canonical Allele Identifier: PA2827769522

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189074

ClinVar Variation:

206930

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Thr226Arg	CA317759 NM_001353951.2:c.677C>G