Allele Registry

Canonical Allele Identifier: PA2827782269

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187809

ClinVar RCV:

RCV000180869

RCV001071061

ClinVar Variation:

189917

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Met757Val	CA303300 NM_001353957.2:c.2269A>G