Allele Registry

Canonical Allele Identifier: PA2827757981

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187811

ClinVar RCV:

RCV000180882

RCV001344647

RCV003482238

ClinVar Variation:

189929

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Pro757Leu	CA303333 NM_001353949.2:c.2270C>T