{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710815",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NP_001836.3:p.Gly948Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388666798",
          "hgvs": "NM_001845.6:c.2842G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=855113[alleleid]",
        "alleleId": 855113,
        "preferredName": "NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/864857",
        "RCV": [
          "RCV002249672"
        ],
        "variationId": 864857
      }
    ]
  },
  "type": "amino-acid"
}