Allele Registry

Canonical Allele Identifier: PA2827749603

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059452

ClinVar Variation:

68576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Thr199Arg	CA285036 NM_001353948.2:c.596C>G