Allele Registry

Canonical Allele Identifier: PA2827761293

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188993

ClinVar Variation:

206859

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Thr1710Lys	CA317581 NM_001353949.2:c.5129C>A