Canonical Allele Identifier: PA231494
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 130245
ClinVar RCV Id: RCV000118281 RCV000820334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Ile1053Ser
CA231493
NM_014191.4:c.3158T>G