Allele Registry

Canonical Allele Identifier: PA2827782225

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187813

ClinVar RCV:

RCV000180853

ClinVar Variation:

189901

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Trp726Leu	CA303254 NM_001353957.2:c.2177G>T