Allele Registry

Canonical Allele Identifier: PA2826013959

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002021598

ClinVar Variation:

1518250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ile1754Leu	CA349068079 NM_001165964.3:c.5260A>C