Allele Registry

Canonical Allele Identifier: PA2827769413

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000494282

RCV000796912

ClinVar Variation:

430305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Thr199Ile	CA349075265 NM_001353951.2:c.596C>T