Allele Registry

Canonical Allele Identifier: PA2827292436

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118284

RCV000239732

RCV001086391

RCV002313921

ClinVar Variation:

130248

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ile1583Thr	CA231495 NM_001330260.2:c.4748T>C