{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829592031",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 818,
          "referenceAllele": "Q",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Gln818His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394823903",
          "hgvs": "NM_005236.3:c.2454A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394823905",
          "hgvs": "NM_005236.3:c.2454A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3259393[alleleid]",
        "alleleId": 3259393,
        "preferredName": "NM_005236.3(ERCC4):c.2454A>C (p.Gln818His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3090112",
        "RCV": [
          "RCV004380531"
        ],
        "variationId": 3090112
      }
    ]
  },
  "type": "amino-acid"
}