Allele Registry

Canonical Allele Identifier: PA2827775129

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189019

RCV002517890

ClinVar Variation:

206880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Ser1907Phe	CA317662 NM_001353952.2:c.5720C>T