Canonical Allele Identifier: PA2828361340
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 573377
ClinVar RCV Id: RCV000695035 RCV001565909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Met1559Ile
CA384880261
NM_001369788.1:c.4677G>A
CA384880262
NM_001369788.1:c.4677G>C
CA384880263
NM_001369788.1:c.4677G>T