Canonical Allele Identifier: PA2828361532
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 530447
ClinVar RCV Id: RCV000636317 RCV000658649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Met1795Val
CA6571926
NM_001369788.1:c.5383A>G