{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658809048",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 510,
          "referenceAllele": "H",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NP_071881.1:p.His510Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346663055",
          "hgvs": "NM_022436.3:c.1528C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=489457[alleleid]",
        "alleleId": 489457,
        "preferredName": "NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498033",
        "RCV": [
          "RCV000595595",
          "RCV002532397"
        ],
        "variationId": 498033
      }
    ]
  },
  "type": "amino-acid"
}