{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580487578",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 154,
          "referenceAllele": "P",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NP_116575.3:p.Pro154Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409669446",
          "hgvs": "NM_032957.5:c.461C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179941"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2089751[alleleid]",
        "alleleId": 2089751,
        "preferredName": "NM_001283009.2(RTEL1):c.396-7C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2031847",
        "RCV": [
          "RCV002867523",
          "RCV003435830"
        ],
        "variationId": 2031847
      }
    ]
  },
  "type": "amino-acid"
}