{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 78,
          "referenceAllele": "Q",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Gln78Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235322",
          "hgvs": "NM_001374625.1:c.233A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28379[alleleid]",
        "alleleId": 28379,
        "preferredName": "NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13340",
        "RCV": [
          "RCV000014268",
          "RCV000033480",
          "RCV000037641",
          "RCV000157680",
          "RCV000515381",
          "RCV000590740",
          "RCV001813202",
          "RCV002453257",
          "RCV004532344"
        ],
        "variationId": 13340
      }
    ]
  },
  "type": "amino-acid"
}