{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645438207",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 169,
          "referenceAllele": "H",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011204",
      "geneNCBI_id": 6662,
      "geneSymbol": "SOX9",
      "hgvs": [
        "NP_000337.1:p.His169Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10581490",
          "hgvs": "NM_000346.4:c.507C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400866449",
          "hgvs": "NM_000346.4:c.507C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146891"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237540[alleleid]",
        "alleleId": 237540,
        "preferredName": "NM_000346.4(SOX9):c.507C>G (p.His169Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235914",
        "RCV": [
          "RCV000278794",
          "RCV000224991",
          "RCV001266335"
        ],
        "variationId": 235914
      }
    ]
  },
  "type": "amino-acid"
}