Allele Registry

Canonical Allele Identifier: PA2827782962

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013751

RCV000059501

RCV002513023

ClinVar Variation:

12891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Lys1242Thr	CA256602 NM_001353957.2:c.3725A>C