Allele Registry

Canonical Allele Identifier: PA2827790255

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Cys113Phe	CA303467 NM_001353961.2:c.338G>T