Allele Registry

Canonical Allele Identifier: PA285131

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059494

ClinVar Variation:

68617

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr1199Lys	CA285129 NM_006920.6:c.3596C>A