Allele Registry

Canonical Allele Identifier: PA2827790191

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413718

ClinVar Variation:

372972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu55Ser	CA16042442 NM_001353961.2:c.164T>C