{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828052259",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 19,
          "referenceAllele": "D",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NP_001344250.1:p.Asp19His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117156",
          "hgvs": "NM_001357321.2:c.55G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20014[alleleid]",
        "alleleId": 20014,
        "preferredName": "NM_022437.3(ABCG8):c.55G>C (p.Asp19His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4975",
        "RCV": [
          "RCV000005263",
          "RCV000269126",
          "RCV000266053",
          "RCV001094725",
          "RCV001705581",
          "RCV002345232",
          "RCV002490320",
          "RCV003982825"
        ],
        "variationId": 4975
      }
    ]
  },
  "type": "amino-acid"
}