{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104557",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 461,
          "referenceAllele": "L",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Leu461Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158746",
          "hgvs": "NM_000400.4:c.1381C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31818[alleleid]",
        "alleleId": 31818,
        "preferredName": "NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16779",
        "RCV": [
          "RCV000018267",
          "RCV000120764",
          "RCV000171546",
          "RCV000897210",
          "RCV002256001",
          "RCV002513097"
        ],
        "variationId": 16779
      }
    ]
  },
  "type": "amino-acid"
}