{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130415",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NP_653178.3:p.Ala248Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130413",
          "hgvs": "NM_144577.4:c.742G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48236[alleleid]",
        "alleleId": 48236,
        "preferredName": "NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39637",
        "RCV": [
          "RCV000032837",
          "RCV000190918",
          "RCV000231978",
          "RCV001579702"
        ],
        "variationId": 39637
      }
    ]
  },
  "type": "amino-acid"
}