{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826679111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 251,
          "referenceAllele": "E",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_001269938.1:p.Glu251Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130956",
          "hgvs": "NM_001283009.2:c.751G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51190[alleleid]",
        "alleleId": 51190,
        "preferredName": "NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42022",
        "RCV": [
          "RCV000034864",
          "RCV002513344"
        ],
        "variationId": 42022
      }
    ]
  },
  "type": "amino-acid"
}