{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 591,
          "referenceAllele": "E",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_057518.1:p.Glu591Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144784",
          "hgvs": "NM_016434.4:c.1773G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA409678121",
          "hgvs": "NM_016434.4:c.1773G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175220"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76346[alleleid]",
        "alleleId": 76346,
        "preferredName": "NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65416",
        "RCV": [
          "RCV000055638"
        ],
        "variationId": 65416
      }
    ]
  },
  "type": "amino-acid"
}