Allele Registry

Canonical Allele Identifier: PA916036369

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187813

ClinVar RCV:

RCV000180853

ClinVar Variation:

189901

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Trp754Leu	CA303254 NM_001353948.2:c.2261G>T