Allele Registry

Canonical Allele Identifier: PA2827292755

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189288

RCV000792213

RCV004528970

ClinVar Variation:

207130

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr1852Ile	CA318298 NM_001330260.2:c.5555C>T