{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA158914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 496,
          "referenceAllele": "Q",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Gln496His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158912",
          "hgvs": "NM_005236.3:c.1488A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA7910476",
          "hgvs": "NM_005236.3:c.1488A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137889[alleleid]",
        "alleleId": 137889,
        "preferredName": "NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874638[alleleid]",
        "alleleId": 874638,
        "preferredName": "NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134150",
        "RCV": [
          "RCV000120823",
          "RCV000459235",
          "RCV001034544",
          "RCV001117661",
          "RCV002258800",
          "RCV002515862"
        ],
        "variationId": 134150
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/885831",
        "RCV": [
          "RCV001117660",
          "RCV002497527"
        ],
        "variationId": 885831
      }
    ]
  },
  "type": "amino-acid"
}