{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827310759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 165,
          "referenceAllele": "R",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_001317326.1:p.Arg165Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA210278",
          "hgvs": "NM_001330397.2:c.493C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624596"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214367[alleleid]",
        "alleleId": 214367,
        "preferredName": "NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217682",
        "RCV": [
          "RCV000201596",
          "RCV000675062",
          "RCV001123799",
          "RCV001123798",
          "RCV002517312"
        ],
        "variationId": 217682
      }
    ]
  },
  "type": "amino-acid"
}