Allele Registry

Canonical Allele Identifier: PA2827775844

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000420406

RCV000636430

RCV003588468

ClinVar Variation:

390676

2734313

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Trp384Arg	CA16603948 NM_001353954.2:c.1150T>A CA349071110 NM_001353954.2:c.1150T>C