Canonical Allele Identifier: PA2827292681
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2851237
ClinVar RCV Id: RCV003754733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ala1777_Ser1781del
CA2739272037
NM_001330260.2:c.5330_5344del