Allele Registry

Canonical Allele Identifier: PA2827764192

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000417000

ClinVar Variation:

375511

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Glu616Asp	CA16044314 NM_001353950.2:c.1848G>C CA349067460 NM_001353950.2:c.1848G>T