Canonical Allele Identifier: PA2826130787
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2765983
ClinVar RCV Id: RCV003590415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Val1833dup
CA2697559275
NM_001177984.2:c.5496_5498dup