{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA152776",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NP_000115.1:p.Gly399Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152774",
          "hgvs": "NM_000124.4:c.1196G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134459[alleleid]",
        "alleleId": 134459,
        "preferredName": "NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129013",
        "RCV": [
          "RCV000116994",
          "RCV000278377",
          "RCV000335722",
          "RCV000375364",
          "RCV001519187",
          "RCV001657732",
          "RCV001657729",
          "RCV001657731",
          "RCV001657730"
        ],
        "variationId": 129013
      }
    ]
  },
  "type": "amino-acid"
}