Allele Registry

Canonical Allele Identifier: PA2827778537

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188839

RCV002517009

ClinVar Variation:

206744

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg219Thr	CA317144 NM_001353955.2:c.656G>C