Allele Registry

Canonical Allele Identifier: PA2827767310

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187736

ClinVar RCV:

RCV000180954

ClinVar Variation:

189998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Val1578Gly	CA303511 NM_001353950.2:c.4733T>G