Allele Registry

Canonical Allele Identifier: PA2827776502

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180827

ClinVar Variation:

189874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Gln898Lys	CA303174 NM_001353954.2:c.2692C>A