{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580557126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 782,
          "referenceAllele": "E",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NP_937983.2:p.Glu782Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3184562",
          "hgvs": "NM_198253.3:c.2346G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359076304",
          "hgvs": "NM_198253.3:c.2346G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185005"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1848057[alleleid]",
        "alleleId": 1848057,
        "preferredName": "NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3102995[alleleid]",
        "alleleId": 3102995,
        "preferredName": "NM_198253.3(TERT):c.2346G>C (p.Glu782Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1789927",
        "RCV": [
          "RCV002448334",
          "RCV003101747"
        ],
        "variationId": 1789927
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2936748",
        "RCV": [
          "RCV003798986"
        ],
        "variationId": 2936748
      }
    ]
  },
  "type": "amino-acid"
}