{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1264,
          "referenceAllele": "R",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_001269938.1:p.Arg1264His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130947",
          "hgvs": "NM_001283009.2:c.3791G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51186[alleleid]",
        "alleleId": 51186,
        "preferredName": "NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42018",
        "RCV": [
          "RCV000034860",
          "RCV000201662",
          "RCV000524079",
          "RCV000586517",
          "RCV000814441",
          "RCV002222150",
          "RCV002513343",
          "RCV003329238"
        ],
        "variationId": 42018
      }
    ]
  },
  "type": "amino-acid"
}