{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916077499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "referenceAllele": "I",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NP_852259.1:p.Ile54Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254304",
          "hgvs": "NM_181486.4:c.161T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184241"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23037[alleleid]",
        "alleleId": 23037,
        "preferredName": "NM_181486.4(TBX5):c.161T>C (p.Ile54Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7998",
        "RCV": [
          "RCV000008462"
        ],
        "variationId": 7998
      }
    ]
  },
  "type": "amino-acid"
}