{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499245458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1234,
          "referenceAllele": "P",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_001269938.1:p.Pro1234Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409686535",
          "hgvs": "NM_001283009.2:c.3700C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1107253[alleleid]",
        "alleleId": 1107253,
        "preferredName": "NM_001283009.2(RTEL1):c.3700C>T (p.Pro1234Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1102500",
        "RCV": [
          "RCV001425841"
        ],
        "variationId": 1102500
      }
    ]
  },
  "type": "amino-acid"
}