{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826273267",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1044,
          "referenceAllele": "V",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NP_001191354.2:p.Val1044Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7041463",
          "hgvs": "NM_001204425.2:c.3130G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709806"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791292[alleleid]",
        "alleleId": 791292,
        "preferredName": "NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802998",
        "RCV": [
          "RCV000989159",
          "RCV001579437",
          "RCV001788388",
          "RCV002255601",
          "RCV003936244"
        ],
        "variationId": 802998
      }
    ]
  },
  "type": "amino-acid"
}