{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828080194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "QLE",
          "end": 525,
          "referenceAllele": "",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NP_001350076.1:p.Met525_Ter526insGlnLeuGlu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3298242",
          "hgvs": "NM_001363147.1:c.1576T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=565182[alleleid]",
        "alleleId": 565182,
        "preferredName": "NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570791",
        "RCV": [
          "RCV000691743",
          "RCV001271415",
          "RCV003323691"
        ],
        "variationId": 570791
      }
    ]
  },
  "type": "amino-acid"
}