{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172365",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1351,
          "referenceAllele": "R",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NP_066963.2:p.Arg1351Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172363",
          "hgvs": "NM_021140.4:c.4052G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177386"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170111[alleleid]",
        "alleleId": 170111,
        "preferredName": "NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158691",
        "RCV": [
          "RCV000146127",
          "RCV000176888"
        ],
        "variationId": 158691
      }
    ]
  },
  "type": "amino-acid"
}