{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108092",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "R",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "NP_000426.2:p.Arg607Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9263542",
          "hgvs": "NM_000435.3:c.1819C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146978"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361523[alleleid]",
        "alleleId": 361523,
        "preferredName": "NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374637",
        "RCV": [
          "RCV000415985",
          "RCV000763036",
          "RCV002221233"
        ],
        "variationId": 374637
      }
    ]
  },
  "type": "amino-acid"
}