Allele Registry

Canonical Allele Identifier: PA2827292477

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000513422

RCV000540178

ClinVar Variation:

444293

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr1614Ala	CA384880355 NM_001330260.2:c.4840A>G