{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530819",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 499,
          "referenceAllele": "Q",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Gln499Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA386779820",
          "hgvs": "NM_001374625.1:c.1495C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1508036[alleleid]",
        "alleleId": 1508036,
        "preferredName": "NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1463473",
        "RCV": [
          "RCV001961060",
          "RCV002224124",
          "RCV002484823"
        ],
        "variationId": 1463473
      }
    ]
  },
  "type": "amino-acid"
}