{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028842",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 530,
          "referenceAllele": "L",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NP_001333369.1:p.Leu530Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043449",
          "hgvs": "NM_001346440.2:c.1589T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617673"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360919[alleleid]",
        "alleleId": 360919,
        "preferredName": "NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374116",
        "RCV": [
          "RCV000415186",
          "RCV001196299",
          "RCV001246234"
        ],
        "variationId": 374116
      }
    ]
  },
  "type": "amino-acid"
}