{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826182316",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 631,
          "referenceAllele": "R",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NP_001180305.1:p.Arg631Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128724",
          "hgvs": "NM_001193376.3:c.1892G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156840"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38854[alleleid]",
        "alleleId": 38854,
        "preferredName": "NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29899",
        "RCV": [
          "RCV000022783",
          "RCV000032370",
          "RCV000677344",
          "RCV002513175",
          "RCV003150932",
          "RCV002509167",
          "RCV002408477",
          "RCV003325404"
        ],
        "variationId": 29899
      }
    ]
  },
  "type": "amino-acid"
}