{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826680874",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 237,
          "referenceAllele": "P",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_001269939.1:p.Pro237Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409676213",
          "hgvs": "NM_001283010.1:c.710C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162882"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1859353[alleleid]",
        "alleleId": 1859353,
        "preferredName": "NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1802166",
        "RCV": [
          "RCV002464981"
        ],
        "variationId": 1802166
      }
    ]
  },
  "type": "amino-acid"
}