Canonical Allele Identifier: PA2828361516
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1023022
ClinVar RCV Id: RCV001323008

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Asp1769Glu
CA384886109
NM_001369788.1:c.5307C>A
CA384886111
NM_001369788.1:c.5307C>G