{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101344",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_060247.2:p.Cys492Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251777",
          "hgvs": "NM_017777.4:c.1476T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573370",
          "hgvs": "NM_017777.4:c.[1476T>G;1115_1117del]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16432[alleleid]",
        "alleleId": 16432,
        "preferredName": "NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1393",
        "RCV": [
          "RCV000001458",
          "RCV000626942",
          "RCV000665962",
          "RCV001239533",
          "RCV001578018",
          "RCV001729331",
          "RCV004532272"
        ],
        "variationId": 1393
      }
    ]
  },
  "type": "amino-acid"
}