{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028146",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "P",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001317366.1:p.Pro495Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261540",
          "hgvs": "NM_001330437.2:c.1483C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49019[alleleid]",
        "alleleId": 49019,
        "preferredName": "NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40549",
        "RCV": [
          "RCV000033535",
          "RCV000694590",
          "RCV000208219",
          "RCV000660240",
          "RCV002490445",
          "RCV004018714"
        ],
        "variationId": 40549
      }
    ]
  },
  "type": "amino-acid"
}