{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA158775",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Ala717Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158773",
          "hgvs": "NM_000400.4:c.2150C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573375",
          "hgvs": "NM_000400.4:c.[2150C>G;1381C>G]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137841[alleleid]",
        "alleleId": 137841,
        "preferredName": "NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134102",
        "RCV": [
          "RCV000120774",
          "RCV000255243",
          "RCV000761018",
          "RCV000990227",
          "RCV000778547",
          "RCV001329855",
          "RCV003114266",
          "RCV002515854",
          "RCV003467078"
        ],
        "variationId": 134102
      }
    ]
  },
  "type": "amino-acid"
}