{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829836484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 972,
          "referenceAllele": "T",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_057518.1:p.Thr972Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9965653",
          "hgvs": "NM_016434.4:c.2915C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175220"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=648829[alleleid]",
        "alleleId": 648829,
        "preferredName": "NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/657337",
        "RCV": [
          "RCV001825634",
          "RCV000813926",
          "RCV003132082",
          "RCV004538117"
        ],
        "variationId": 657337
      }
    ]
  },
  "type": "amino-acid"
}