Allele Registry

Canonical Allele Identifier: PA2827782461

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180827

ClinVar Variation:

189874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Gln882Lys	CA303174 NM_001353957.2:c.2644C>A