Allele Registry

Canonical Allele Identifier: PA2827750366

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180840

ClinVar Variation:

189888

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met379Lys	CA303214 NM_001353948.2:c.1136T>A