{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580243618",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 157,
          "referenceAllele": "F",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NP_001366129.1:p.Phe157Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410682153",
          "hgvs": "NM_001379200.1:c.470T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2137608[alleleid]",
        "alleleId": 2137608,
        "preferredName": "NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2088842",
        "RCV": [
          "RCV003018200"
        ],
        "variationId": 2088842
      }
    ]
  },
  "type": "amino-acid"
}