Canonical Allele Identifier: PA2828360337
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1514484
ClinVar RCV Id: RCV002048274
ClinVar Variation Id: 2112939
ClinVar RCV Id: RCV003027071

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Asn276Lys
CA385226610
NM_001369788.1:c.828C>A
CA385226611
NM_001369788.1:c.828C>G