Allele Registry

Canonical Allele Identifier: PA2827772578

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189074

ClinVar Variation:

206930

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Thr226Arg	CA317759 NM_001353952.2:c.677C>G