{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA234741",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 265,
          "referenceAllele": "R",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Arg265Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234739",
          "hgvs": "NM_002834.5:c.794G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48992[alleleid]",
        "alleleId": 48992,
        "preferredName": "NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40522",
        "RCV": [
          "RCV000037658",
          "RCV000153788",
          "RCV000234910",
          "RCV000477501",
          "RCV000723292",
          "RCV000988915",
          "RCV001253554",
          "RCV001536068",
          "RCV002415447"
        ],
        "variationId": 40522
      }
    ]
  },
  "type": "amino-acid"
}