Allele Registry

Canonical Allele Identifier: PA2827749254

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180851

ClinVar Variation:

189899

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ser103Ile	CA303246 NM_001353948.2:c.308G>T