{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916058581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 172,
          "referenceAllele": "R",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NP_569711.2:p.Arg172His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10065497",
          "hgvs": "NM_130444.2:c.515G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442317[alleleid]",
        "alleleId": 442317,
        "preferredName": "NM_001379500.1(COL18A1):c.107-12197G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447131",
        "RCV": [
          "RCV000517619",
          "RCV000764262",
          "RCV000766954",
          "RCV002527466",
          "RCV004553126"
        ],
        "variationId": 447131
      }
    ]
  },
  "type": "amino-acid"
}