Allele Registry

Canonical Allele Identifier: PA2827783868

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002021598

ClinVar Variation:

1518250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ile1754Leu	CA349068079 NM_001353957.2:c.5260A>C