{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573081248",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "F",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NP_001909.4:p.Phe276Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121797",
          "hgvs": "NM_001918.5:c.827T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26982[alleleid]",
        "alleleId": 26982,
        "preferredName": "NM_001918.5(DBT):c.827T>G (p.Phe276Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11943",
        "RCV": [
          "RCV000079957",
          "RCV000179835",
          "RCV002251898",
          "RCV003581558"
        ],
        "variationId": 11943
      }
    ]
  },
  "type": "amino-acid"
}