{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499296195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1592,
          "referenceAllele": "R",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NP_569711.2:p.Arg1592Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10067949",
          "hgvs": "NM_130444.2:c.4775G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1022055[alleleid]",
        "alleleId": 1022055,
        "preferredName": "NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031584",
        "RCV": [
          "RCV001333463",
          "RCV001452439",
          "RCV004546636",
          "RCV004548178"
        ],
        "variationId": 1031584
      }
    ]
  },
  "type": "amino-acid"
}