Allele Registry

Canonical Allele Identifier: PA2827783009

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188933

RCV000471568

RCV000724898

RCV000986884

RCV001252612

RCV002314753

ClinVar Variation:

206812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr1272Ile	CA317408 NM_001353957.2:c.3815C>T