{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113215",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_000143.2:p.Gly293Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116622",
          "hgvs": "NM_000152.5:c.877G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401363876",
          "hgvs": "NM_000152.5:c.877G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19075[alleleid]",
        "alleleId": 19075,
        "preferredName": "NM_000152.5(GAA):c.877G>A (p.Gly293Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314710[alleleid]",
        "alleleId": 1314710,
        "preferredName": "NM_000152.5(GAA):c.877G>C (p.Gly293Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4036",
        "RCV": [
          "RCV000004251",
          "RCV000578430",
          "RCV000728952"
        ],
        "variationId": 4036
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324438",
        "RCV": [
          "RCV001781143"
        ],
        "variationId": 1324438
      }
    ]
  },
  "type": "amino-acid"
}