Allele Registry

Canonical Allele Identifier: PA2827784144

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000488105

RCV001476355

RCV002356797

RCV004527596

ClinVar Variation:

425223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Met1931Ile	CA1942628 NM_001353957.2:c.5793G>T CA349063374 NM_001353957.2:c.5793G>C CA349063376 NM_001353957.2:c.5793G>A