Canonical Allele Identifier: PA2826130806
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1407277
ClinVar RCV Id: RCV001918359

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Thr1847Ser
CA6571937
NM_001177984.2:c.5539A>T
CA384888392
NM_001177984.2:c.5540C>G