{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891849688",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62,
          "referenceAllele": "R",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NP_000438.2:p.Arg62Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1424432",
          "hgvs": "NM_000447.3:c.184C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146990"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=556792[alleleid]",
        "alleleId": 556792,
        "preferredName": "NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567646",
        "RCV": [
          "RCV000687794",
          "RCV001584558",
          "RCV002485611",
          "RCV003420219"
        ],
        "variationId": 567646
      }
    ]
  },
  "type": "amino-acid"
}