Allele Registry

Canonical Allele Identifier: PA303469

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Cys916Phe	CA303467 NM_006920.6:c.2747G>T