Allele Registry

Canonical Allele Identifier: PA2826013162

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187754

ClinVar RCV:

RCV000180905

ClinVar Variation:

189952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ala1311Val	CA303389 NM_001165964.3:c.3932C>T