{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334642",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 78,
          "referenceAllele": "I",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_060247.2:p.Ile78Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334638",
          "hgvs": "NM_017777.4:c.233T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186263[alleleid]",
        "alleleId": 186263,
        "preferredName": "NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188334",
        "RCV": [
          "RCV000168353",
          "RCV000665745"
        ],
        "variationId": 188334
      }
    ]
  },
  "type": "amino-acid"
}