{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827312714",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 52,
          "referenceAllele": "T",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001317366.1:p.Thr52Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261555",
          "hgvs": "NM_001330437.2:c.155C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48954[alleleid]",
        "alleleId": 48954,
        "preferredName": "NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40484",
        "RCV": [
          "RCV000033452",
          "RCV000037621",
          "RCV000809051",
          "RCV002287349"
        ],
        "variationId": 40484
      }
    ]
  },
  "type": "amino-acid"
}