Allele Registry

Canonical Allele Identifier: PA2827291171

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000636433

RCV001526836

RCV001591417

ClinVar Variation:

530531

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Glu507Gln	CA6571272 NM_001330260.2:c.1519G>C