Allele Registry

Canonical Allele Identifier: PA317584

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188993

ClinVar Variation:

206859

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Thr1721Lys	CA317581 NM_001165963.4:c.5162C>A