{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645384520",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "R",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Arg1242Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10578156",
          "hgvs": "NM_000179.3:c.3724C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232831[alleleid]",
        "alleleId": 232831,
        "preferredName": "NM_000179.3(MSH6):c.3724C>T (p.Arg1242Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232375",
        "RCV": [
          "RCV000218524",
          "RCV001243869",
          "RCV003462494",
          "RCV003322762",
          "RCV003997965"
        ],
        "variationId": 232375
      }
    ]
  },
  "type": "amino-acid"
}