{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129207",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 208,
          "referenceAllele": "E",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "NP_005466.1:p.Glu208Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129205",
          "hgvs": "NM_005475.3:c.622G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171103"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39402[alleleid]",
        "alleleId": 39402,
        "preferredName": "NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30445",
        "RCV": [
          "RCV000023398",
          "RCV000988910",
          "RCV001529953",
          "RCV001843460",
          "RCV002466413"
        ],
        "variationId": 30445
      }
    ]
  },
  "type": "amino-acid"
}