{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530832",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 505,
          "referenceAllele": "Q",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Gln505Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235331",
          "hgvs": "NM_001374625.1:c.1514A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA284668",
          "hgvs": "NM_001374625.1:c.1514_1515delinsCC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49033[alleleid]",
        "alleleId": 49033,
        "preferredName": "NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70455[alleleid]",
        "alleleId": 70455,
        "preferredName": "NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40563",
        "RCV": [
          "RCV000033550",
          "RCV000055887",
          "RCV000154371",
          "RCV000157683",
          "RCV001849289",
          "RCV002390133",
          "RCV004554638",
          "RCV004541060"
        ],
        "variationId": 40563
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55799",
        "RCV": [
          "RCV000049230"
        ],
        "variationId": 55799
      }
    ]
  },
  "type": "amino-acid"
}