{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499246393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 60,
          "referenceAllele": "W",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "NP_001278353.1:p.Trp60Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6789733",
          "hgvs": "NM_001291424.1:c.178T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386710508",
          "hgvs": "NM_001291424.1:c.178T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3249353636",
          "hgvs": "NM_001291424.1:c.177_178delinsAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164683"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1254915[alleleid]",
        "alleleId": 1254915,
        "preferredName": "NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1265448",
        "RCV": [
          "RCV001667974",
          "RCV002488461"
        ],
        "variationId": 1265448
      }
    ]
  },
  "type": "amino-acid"
}