Allele Registry

Canonical Allele Identifier: PA2826013056

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013751

RCV000059501

RCV002513023

ClinVar Variation:

12891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Lys1242Thr	CA256602 NM_001165964.3:c.3725A>C