Allele Registry

Canonical Allele Identifier: PA2827783342

Gene: SCN1A HGNC NCBI

ClinVar Allele:

198608

ClinVar RCV:

RCV000986878

ClinVar Variation:

202173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ile1454Leu	CA275462 NM_001353957.2:c.4360A>C