Allele Registry

Canonical Allele Identifier: PA2826260446

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188993

ClinVar Variation:

206859

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Thr1721Lys	CA317581 NM_001202435.3:c.5162C>A