Allele Registry

Canonical Allele Identifier: PA2826013739

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000494294

RCV002527098

ClinVar Variation:

430088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Leu1639Pro	CA349069782 NM_001165964.3:c.4916T>C