Allele Registry

Canonical Allele Identifier: PA2827782406

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059470

RCV002247463

ClinVar Variation:

68594

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr847Lys	CA285072 NM_001353957.2:c.2540C>A