{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826189097",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 116,
          "referenceAllele": "V",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NP_001180465.1:p.Val116Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4957315",
          "hgvs": "NM_001193536.1:c.346G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=318804[alleleid]",
        "alleleId": 318804,
        "preferredName": "NM_203447.4(DOCK8):c.550G>A (p.Val184Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/366544",
        "RCV": [
          "RCV000693678",
          "RCV002244840",
          "RCV003761948"
        ],
        "variationId": 366544
      }
    ]
  },
  "type": "amino-acid"
}