{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916010646",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010583",
      "geneNCBI_id": 11280,
      "geneSymbol": "SCN11A",
      "hgvs": [
        "NP_054858.2:p.Ala808Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352175178",
          "hgvs": "NM_014139.3:c.2423C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173470"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792667[alleleid]",
        "alleleId": 792667,
        "preferredName": "NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804348",
        "RCV": [
          "RCV000991311"
        ],
        "variationId": 804348
      }
    ]
  },
  "type": "amino-acid"
}