Allele Registry

Canonical Allele Identifier: PA2827749471

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189072

RCV000636394

RCV001252613

ClinVar Variation:

206928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu158Gln	CA317752 NM_001353948.2:c.472G>C