Allele Registry

Canonical Allele Identifier: PA2827765897

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059494

ClinVar Variation:

68617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Thr1199Lys	CA285129 NM_001353950.2:c.3596C>A