Allele Registry

Canonical Allele Identifier: PA107982

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013751

RCV000059501

RCV002513023

ClinVar Variation:

12891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Lys1270Thr	CA256602 NM_001165963.4:c.3809A>C