{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826181398",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 189,
          "referenceAllele": "H",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NP_001180305.1:p.His189Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3184955",
          "hgvs": "NM_001193376.3:c.567C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359057444",
          "hgvs": "NM_001193376.3:c.567C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156840"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=633034[alleleid]",
        "alleleId": 633034,
        "preferredName": "NM_198253.3(TERT):c.567C>A (p.His189Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1803457[alleleid]",
        "alleleId": 1803457,
        "preferredName": "NM_198253.3(TERT):c.567C>G (p.His189Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645310",
        "RCV": [
          "RCV002538019",
          "RCV002345778",
          "RCV003332255"
        ],
        "variationId": 645310
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1749005",
        "RCV": [
          "RCV002347405"
        ],
        "variationId": 1749005
      }
    ]
  },
  "type": "amino-acid"
}