{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830036336",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1283,
          "referenceAllele": "R",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NP_085059.2:p.Arg1283Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10067852",
          "hgvs": "NM_030582.4:c.3847C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1107532[alleleid]",
        "alleleId": 1107532,
        "preferredName": "NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1119343",
        "RCV": [
          "RCV001448753",
          "RCV002501574",
          "RCV004550188"
        ],
        "variationId": 1119343
      }
    ]
  },
  "type": "amino-acid"
}