Allele Registry

Canonical Allele Identifier: PA2826011902

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180840

ClinVar Variation:

189888

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Met379Lys	CA303214 NM_001165964.3:c.1136T>A