Allele Registry

Canonical Allele Identifier: PA2827291519

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000190513

RCV000850597

RCV001852528

RCV002444773

RCV003992223

ClinVar Variation:

208500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr767Ile	CA204472 NM_001330260.2:c.2300C>T