Allele Registry

Canonical Allele Identifier: PA916036577

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518972

RCV001340972

ClinVar Variation:

449138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Arg1988Gln	CA1942622 NM_001353948.2:c.5963G>A