{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829836860",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "A",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_057518.1:p.Ala1059Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9965892",
          "hgvs": "NM_016434.4:c.3175G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175220"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471496[alleleid]",
        "alleleId": 471496,
        "preferredName": "NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/473918",
        "RCV": [
          "RCV000536138",
          "RCV001273633",
          "RCV001637079"
        ],
        "variationId": 473918
      }
    ]
  },
  "type": "amino-acid"
}