{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645413915",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 463,
          "referenceAllele": "R",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_060247.2:p.Arg463Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8669152",
          "hgvs": "NM_017777.4:c.1388G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271121[alleleid]",
        "alleleId": 271121,
        "preferredName": "NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286884",
        "RCV": [
          "RCV000285730",
          "RCV000335464",
          "RCV000400230",
          "RCV000514906",
          "RCV001083793",
          "RCV001094550"
        ],
        "variationId": 286884
      }
    ]
  },
  "type": "amino-acid"
}