Allele Registry

Canonical Allele Identifier: PA916036505

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187706

ClinVar RCV:

RCV000180919

RCV003480074

ClinVar Variation:

189965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu1839Val	CA303429 NM_001353948.2:c.5515C>G