Allele Registry

Canonical Allele Identifier: PA2827779880

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059494

ClinVar Variation:

68617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Thr1198Lys	CA285129 NM_001353955.2:c.3593C>A