{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA260339",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 432,
          "referenceAllele": "R",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NP_000080.2:p.Arg432Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA260337",
          "hgvs": "NM_000089.4:c.1295G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44598[alleleid]",
        "alleleId": 44598,
        "preferredName": "NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35934",
        "RCV": [
          "RCV000029590",
          "RCV000412879",
          "RCV001249446",
          "RCV002228062"
        ],
        "variationId": 35934
      }
    ]
  },
  "type": "amino-acid"
}