Allele Registry

Canonical Allele Identifier: PA2827779612

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180955

ClinVar Variation:

189999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val965Met	CA303515 NM_001353955.2:c.2893G>A