{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828329803",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 231,
          "referenceAllele": "F",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003433",
      "geneNCBI_id": 2067,
      "geneSymbol": "ERCC1",
      "hgvs": [
        "NP_001356345.1:p.Phe231Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126880",
          "hgvs": "NM_001369416.1:c.693C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406355844",
          "hgvs": "NM_001369416.1:c.693C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406355851",
          "hgvs": "NM_001369416.1:c.691T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31817[alleleid]",
        "alleleId": 31817,
        "preferredName": "NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16778",
        "RCV": [
          "RCV000018266",
          "RCV000252117"
        ],
        "variationId": 16778
      }
    ]
  },
  "type": "amino-acid"
}