Allele Registry

Canonical Allele Identifier: PA916036893

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059430

RCV001339387

RCV001781396

ClinVar Variation:

68556

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val816Met	CA284988 NM_001353961.2:c.2446G>A