Allele Registry

Canonical Allele Identifier: PA2827753661

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188949

RCV000766760

RCV001211105

ClinVar Variation:

206826

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu1449Phe	CA317455 NM_001353948.2:c.4345C>T