Canonical Allele Identifier: PA2827291780
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2825271
ClinVar RCV Id: RCV003754348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asn996Lys
CA384892053
NM_001330260.2:c.2988C>A
CA384892054
NM_001330260.2:c.2988C>G