{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710854",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1006,
          "referenceAllele": "L",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NP_001836.3:p.Leu1006Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388665827",
          "hgvs": "NM_001845.6:c.3016C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980947[alleleid]",
        "alleleId": 980947,
        "preferredName": "NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992987",
        "RCV": [
          "RCV002246276"
        ],
        "variationId": 992987
      }
    ]
  },
  "type": "amino-acid"
}