Allele Registry

Canonical Allele Identifier: PA916036912

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518407

RCV003753130

ClinVar Variation:

448257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Lys837Thr	CA349070051 NM_001353961.2:c.2510A>C