Allele Registry

Canonical Allele Identifier: PA916036611

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201531

ClinVar RCV:

RCV001229261

RCV001311216

ClinVar Variation:

206797

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Asp260Asn	CA317351 NM_001353961.2:c.778G>A