Allele Registry

Canonical Allele Identifier: PA2827776448

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059470

RCV002247463

ClinVar Variation:

68594

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Thr863Lys	CA285072 NM_001353954.2:c.2588C>A