{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827270351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 123,
          "referenceAllele": "P",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026087",
      "geneNCBI_id": 55027,
      "geneSymbol": "HEATR3",
      "hgvs": [
        "NP_001316658.1:p.Pro123Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395836592",
          "hgvs": "NM_001329729.1:c.368C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652691"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324873[alleleid]",
        "alleleId": 1324873,
        "preferredName": "NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334103",
        "RCV": [
          "RCV001809318",
          "RCV002291229"
        ],
        "variationId": 1334103
      }
    ]
  },
  "type": "amino-acid"
}