Canonical Allele Identifier: PA2828361448
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 859059
ClinVar RCV Id: RCV001065082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Pro1678Ala
CA384883967
NM_001369788.1:c.5032C>G