Canonical Allele Identifier: PA2828361131
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253288
ClinVar RCV Id: RCV000239751 RCV000493549 RCV002519872 RCV003335289 RCV003992247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ile1286Val
CA10586295
NM_001369788.1:c.3856A>G