{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710754",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NP_001836.3:p.Gly864Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388667785",
          "hgvs": "NM_001845.6:c.2591G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975368[alleleid]",
        "alleleId": 975368,
        "preferredName": "NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987483",
        "RCV": [
          "RCV001268878",
          "RCV004017815"
        ],
        "variationId": 987483
      }
    ]
  },
  "type": "amino-acid"
}