{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645480480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "referenceAllele": "I",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NP_114141.2:p.Ile2930Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1293223",
          "hgvs": "NM_031935.3:c.8789T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278883[alleleid]",
        "alleleId": 278883,
        "preferredName": "NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294200",
        "RCV": [
          "RCV000305557",
          "RCV000886355"
        ],
        "variationId": 294200
      }
    ]
  },
  "type": "amino-acid"
}