{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139690971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1632,
          "referenceAllele": "R",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NP_001191354.2:p.Arg1632His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7041924",
          "hgvs": "NM_001204425.2:c.4895G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709806"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=870667[alleleid]",
        "alleleId": 870667,
        "preferredName": "NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/881142",
        "RCV": [
          "RCV001109957",
          "RCV003153930"
        ],
        "variationId": 881142
      }
    ]
  },
  "type": "amino-acid"
}