Allele Registry

Canonical Allele Identifier: PA2829676750

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518972

RCV001340972

ClinVar Variation:

449138

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Arg1977Gln	CA1942622 NM_006920.6:c.5930G>A