Canonical Allele Identifier: PA2741942660
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2763851
ClinVar RCV Id: RCV003590343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Ala987Val
CA384891907
NM_014191.4:c.2960C>T