Allele Registry

Canonical Allele Identifier: PA645403522

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000428224

RCV000794021

ClinVar Variation:

381569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ser940Phe	CA16604035 NM_001165963.4:c.2819C>T