Allele Registry

Canonical Allele Identifier: PA2827770589

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188898

RCV000559138

RCV001253284

ClinVar Variation:

206788

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Val936Met	CA317315 NM_001353951.2:c.2806G>A