{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139749211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NP_569711.2:p.Gly1354Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10067482",
          "hgvs": "NM_130444.2:c.4060G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350859[alleleid]",
        "alleleId": 350859,
        "preferredName": "NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/340258",
        "RCV": [
          "RCV000375403",
          "RCV001861181"
        ],
        "variationId": 340258
      }
    ]
  },
  "type": "amino-acid"
}