{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830336239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 196,
          "referenceAllele": "Q",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002501",
      "geneNCBI_id": 1491,
      "geneSymbol": "CTH",
      "hgvs": [
        "NP_714964.2:p.Gln196Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115890",
          "hgvs": "NM_153742.5:c.586C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183007"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17979[alleleid]",
        "alleleId": 17979,
        "preferredName": "NM_001902.6(CTH):c.718C>G (p.Gln240Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2940",
        "RCV": [
          "RCV000003074"
        ],
        "variationId": 2940
      }
    ]
  },
  "type": "amino-acid"
}