Allele Registry

Canonical Allele Identifier: PA2827790076

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000488105

RCV001476355

RCV002356797

RCV004527596

ClinVar Variation:

425223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Met1930Ile	CA1942628 NM_001353960.2:c.5790G>T CA349063374 NM_001353960.2:c.5790G>C CA349063376 NM_001353960.2:c.5790G>A