Allele Registry

Canonical Allele Identifier: PA2827778504

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059452

ClinVar Variation:

68576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Thr199Arg	CA285036 NM_001353955.2:c.596C>G