Allele Registry

Canonical Allele Identifier: PA303514

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187736

ClinVar RCV:

RCV000180954

ClinVar Variation:

189998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Val1589Gly	CA303511 NM_001165963.4:c.4766T>G