Canonical Allele Identifier: PA2827291782
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2057537
ClinVar RCV Id: RCV002942017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asn996Asp
CA384892048
NM_001330260.2:c.2986A>G