Allele Registry

Canonical Allele Identifier: PA2827782589

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413641

ClinVar Variation:

372977

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Leu953Ile	CA16042438 NM_001353957.2:c.2857C>A