{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913192667",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 129,
          "referenceAllele": "P",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "NP_004353.1:p.Pro129Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358278611",
          "hgvs": "NM_004362.3:c.386C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170068"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590850[alleleid]",
        "alleleId": 590850,
        "preferredName": "NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599573",
        "RCV": [
          "RCV000736211"
        ],
        "variationId": 599573
      }
    ]
  },
  "type": "amino-acid"
}