Canonical Allele Identifier: PA2828361361
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1318937
ClinVar RCV Id: RCV001755585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1582Cys
CA236327337
NM_001369788.1:c.4744C>T