Allele Registry

Canonical Allele Identifier: PA2827290791

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000420545

RCV003588629

ClinVar Variation:

378553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr166Ile	CA16606307 NM_001330260.2:c.497C>T