{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573067455",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NP_001191354.2:p.Cys983Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152765",
          "hgvs": "NM_001204425.2:c.2948G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388573636",
          "hgvs": "NM_001204425.2:c.2947T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709806"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134456[alleleid]",
        "alleleId": 134456,
        "preferredName": "NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129010",
        "RCV": [
          "RCV000116991",
          "RCV000625477",
          "RCV001355472"
        ],
        "variationId": 129010
      }
    ]
  },
  "type": "amino-acid"
}