Allele Registry

Canonical Allele Identifier: PA285038

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059452

ClinVar Variation:

68576

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr199Arg	CA285036 NM_006920.6:c.596C>G