Allele Registry

Canonical Allele Identifier: PA2827292292

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV001224613

ClinVar Variation:

952494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ile1479Leu	CA384909033 NM_001330260.2:c.4435A>C