Allele Registry

Canonical Allele Identifier: PA2827292451

Gene: SCN8A HGNC NCBI

ClinVar Allele:

527774

ClinVar RCV:

RCV000636403

RCV003493686

ClinVar Variation:

530514

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Val1592Ile	CA384879341 NM_001330260.2:c.4774G>A