{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915955089",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 519,
          "referenceAllele": "R",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NP_000080.2:p.Arg519Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4347099",
          "hgvs": "NM_000089.4:c.1555C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=722743[alleleid]",
        "alleleId": 722743,
        "preferredName": "NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/717591",
        "RCV": [
          "RCV001858557",
          "RCV001162572",
          "RCV001162573"
        ],
        "variationId": 717591
      }
    ]
  },
  "type": "amino-acid"
}