Allele Registry

Canonical Allele Identifier: PA231496

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118284

RCV000239732

RCV001086391

RCV002313921

ClinVar Variation:

130248

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ile1583Thr	CA231495 NM_014191.4:c.4748T>C