{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123824",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "I",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NP_000244.2:p.Ile128Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123823",
          "hgvs": "NM_000253.4:c.383T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146800"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29281[alleleid]",
        "alleleId": 29281,
        "preferredName": "NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14242",
        "RCV": [
          "RCV000015310",
          "RCV000117636",
          "RCV000333725",
          "RCV001522091",
          "RCV002496371"
        ],
        "variationId": 14242
      }
    ]
  },
  "type": "amino-acid"
}