{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA127243",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 422,
          "referenceAllele": "V",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001869",
      "geneNCBI_id": 1071,
      "geneSymbol": "CETP",
      "hgvs": [
        "NP_000069.2:p.Val422Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127242",
          "hgvs": "NM_000078.3:c.1264G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3047141823",
          "hgvs": "NM_000078.3:c.1263_1264delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32564[alleleid]",
        "alleleId": 32564,
        "preferredName": "NM_000078.3(CETP):c.1264G>A (p.Val422Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17525",
        "RCV": [
          "RCV000019077",
          "RCV000283037",
          "RCV001636604",
          "RCV001699101",
          "RCV002243654"
        ],
        "variationId": 17525
      }
    ]
  },
  "type": "amino-acid"
}