{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Gly502Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220137",
          "hgvs": "NM_001374625.1:c.1504G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA273459",
          "hgvs": "NM_001374625.1:c.1504G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891844000",
          "hgvs": "NM_001374625.1:c.1503_1504delinsCC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49028[alleleid]",
        "alleleId": 49028,
        "preferredName": "NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49029[alleleid]",
        "alleleId": 49029,
        "preferredName": "NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=571274[alleleid]",
        "alleleId": 571274,
        "preferredName": "NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40558",
        "RCV": [
          "RCV000033545",
          "RCV000210040",
          "RCV000515165",
          "RCV000824750",
          "RCV001028095",
          "RCV001374913",
          "RCV002390131",
          "RCV004532494"
        ],
        "variationId": 40558
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40559",
        "RCV": [
          "RCV000033546",
          "RCV000077852",
          "RCV000157015",
          "RCV000660241",
          "RCV000618529",
          "RCV000762886",
          "RCV000824749",
          "RCV001813261",
          "RCV003147310",
          "RCV003147311",
          "RCV004532495"
        ],
        "variationId": 40559
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571101",
        "RCV": [
          "RCV000692146"
        ],
        "variationId": 571101
      }
    ]
  },
  "type": "amino-acid"
}