{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499294939",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NP_203699.1:p.Gly1439Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413853907",
          "hgvs": "NM_033380.3:c.4316G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180226"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984011[alleleid]",
        "alleleId": 984011,
        "preferredName": "NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996230",
        "RCV": [
          "RCV001290541",
          "RCV001377048"
        ],
        "variationId": 996230
      }
    ]
  },
  "type": "amino-acid"
}