Allele Registry

Canonical Allele Identifier: PA2827790367

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413641

ClinVar Variation:

372977

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu167Ile	CA16042438 NM_001353961.2:c.499C>A