{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499228241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NP_000083.3:p.Gly1227Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350837776",
          "hgvs": "NM_000092.5:c.3679G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350837777",
          "hgvs": "NM_000092.5:c.3679G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146644"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=988401[alleleid]",
        "alleleId": 988401,
        "preferredName": "NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3494884[alleleid]",
        "alleleId": 3494884,
        "preferredName": "NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1006737",
        "RCV": [
          "RCV001303827"
        ],
        "variationId": 1006737
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3336205",
        "RCV": [
          "RCV004690785",
          "RCV005023632"
        ],
        "variationId": 3336205
      }
    ]
  },
  "type": "amino-acid"
}