Allele Registry

Canonical Allele Identifier: PA2826259284

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180955

ClinVar Variation:

189999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Val977Met	CA303515 NM_001202435.3:c.2929G>A