{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916056453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Thr73Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA282079",
          "hgvs": "NM_080601.3:c.217A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48971[alleleid]",
        "alleleId": 48971,
        "preferredName": "NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40501",
        "RCV": [
          "RCV000033474",
          "RCV003152671",
          "RCV003654180"
        ],
        "variationId": 40501
      }
    ]
  },
  "type": "amino-acid"
}