{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "NP_000352.1:p.Ala43Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256539",
          "hgvs": "NM_000361.3:c.127G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27757[alleleid]",
        "alleleId": 27757,
        "preferredName": "NM_000361.3(THBD):c.127G>A (p.Ala43Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12718",
        "RCV": [
          "RCV000013555",
          "RCV000886689",
          "RCV001328105",
          "RCV001818154",
          "RCV003914835"
        ],
        "variationId": 12718
      }
    ]
  },
  "type": "amino-acid"
}