Allele Registry

Canonical Allele Identifier: PA916036432

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Cys927Phe	CA303467 NM_001353948.2:c.2780G>T