Allele Registry

Canonical Allele Identifier: PA317410

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188933

RCV000471568

RCV000724898

RCV000986884

RCV001252612

RCV002314753

ClinVar Variation:

206812

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr1289Ile	CA317408 NM_006920.6:c.3866C>T