{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710881",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NP_001836.3:p.Gly1038Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388665587",
          "hgvs": "NM_001845.6:c.3112G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962733[alleleid]",
        "alleleId": 962733,
        "preferredName": "NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974460",
        "RCV": [
          "RCV001281219"
        ],
        "variationId": 974460
      }
    ]
  },
  "type": "amino-acid"
}