Allele Registry

Canonical Allele Identifier: PA2827771154

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578191

RCV003588648

ClinVar Variation:

488378

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ile1336Asn	CA349050737 NM_001353951.2:c.4007T>A