Allele Registry

Canonical Allele Identifier: PA2827784164

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518972

RCV001340972

ClinVar Variation:

449138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Arg1960Gln	CA1942622 NM_001353957.2:c.5879G>A