Allele Registry

Canonical Allele Identifier: PA2827761028

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188989

RCV003753105

ClinVar Variation:

206855

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Met1654Ile	CA317565 NM_001353949.2:c.4962G>A CA349069812 NM_001353949.2:c.4962G>T CA349069815 NM_001353949.2:c.4962G>C