{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 75,
          "referenceAllele": "E",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Glu75Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261577",
          "hgvs": "NM_001374625.1:c.225G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA261580",
          "hgvs": "NM_001374625.1:c.225G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48972[alleleid]",
        "alleleId": 48972,
        "preferredName": "NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48973[alleleid]",
        "alleleId": 48973,
        "preferredName": "NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40502",
        "RCV": [
          "RCV000033478",
          "RCV000037639",
          "RCV000254683",
          "RCV000762884",
          "RCV001813246",
          "RCV003150934"
        ],
        "variationId": 40502
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40503",
        "RCV": [
          "RCV000037638",
          "RCV000033479",
          "RCV000856760",
          "RCV000472904",
          "RCV002453282"
        ],
        "variationId": 40503
      }
    ]
  },
  "type": "amino-acid"
}