{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057491261",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 104,
          "referenceAllele": "AKEVY",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NP_003229.1:p.Ala100_Tyr104del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281900",
          "hgvs": "NM_003238.6:c.294_308del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169036"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45761[alleleid]",
        "alleleId": 45761,
        "preferredName": "NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37086",
        "RCV": [
          "RCV000030733"
        ],
        "variationId": 37086
      }
    ]
  },
  "type": "amino-acid"
}