Allele Registry

Canonical Allele Identifier: PA2827780636

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518407

RCV003753130

ClinVar Variation:

448257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Lys1639Thr	CA349070051 NM_001353955.2:c.4916A>C