Allele Registry

Canonical Allele Identifier: PA2827782966

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180984

ClinVar Variation:

190028

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Tyr1246Ser	CA303594 NM_001353957.2:c.3737A>C