Allele Registry

Canonical Allele Identifier: PA2827789799

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002021598

ClinVar Variation:

1518250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Ile1753Leu	CA349068079 NM_001353960.2:c.5257A>C