{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828833510",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NP_001366429.1:p.Ala563Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10066510",
          "hgvs": "NM_001379500.1:c.1687G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734938"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351880[alleleid]",
        "alleleId": 351880,
        "preferredName": "NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/340227",
        "RCV": [
          "RCV000340898",
          "RCV004549789",
          "RCV001349865",
          "RCV002523183"
        ],
        "variationId": 340227
      }
    ]
  },
  "type": "amino-acid"
}