Allele Registry

Canonical Allele Identifier: PA2827781192

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518972

RCV001340972

ClinVar Variation:

449138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg1976Gln	CA1942622 NM_001353955.2:c.5927G>A