{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA217205",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 223,
          "referenceAllele": "E",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NP_002046.1:p.Glu223Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217204",
          "hgvs": "NM_002055.5:c.667G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356591",
          "hgvs": "NM_002055.5:c.[667G>C;236G>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77391[alleleid]",
        "alleleId": 77391,
        "preferredName": "NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66494",
        "RCV": [
          "RCV000056895",
          "RCV000192131"
        ],
        "variationId": 66494
      }
    ]
  },
  "type": "amino-acid"
}