{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139765797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 348,
          "referenceAllele": "S",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NP_937983.2:p.Ser348Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359055821",
          "hgvs": "NM_198253.3:c.1043G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185005"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=944298[alleleid]",
        "alleleId": 944298,
        "preferredName": "NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956943",
        "RCV": [
          "RCV002256713",
          "RCV002402719",
          "RCV002563174"
        ],
        "variationId": 956943
      }
    ]
  },
  "type": "amino-acid"
}