{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826680489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1152,
          "referenceAllele": "R",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_001269938.1:p.Arg1152Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409685463",
          "hgvs": "NM_001283009.2:c.3456G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA409685464",
          "hgvs": "NM_001283009.2:c.3456G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3092583[alleleid]",
        "alleleId": 3092583,
        "preferredName": "NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2924344",
        "RCV": [
          "RCV003786094"
        ],
        "variationId": 2924344
      }
    ]
  },
  "type": "amino-acid"
}