Allele Registry

Canonical Allele Identifier: PA2827292418

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000727444

RCV001210171

RCV004537588

ClinVar Variation:

207143

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Met1573Ile	CA318323 NM_001330260.2:c.4719G>A CA384879211 NM_001330260.2:c.4719G>C CA384879212 NM_001330260.2:c.4719G>T