Allele Registry

Canonical Allele Identifier: PA2827781447

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000481626

ClinVar Variation:

418590

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Leu170Pro	CA16617316 NM_001353957.2:c.509T>C