{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827090442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 218,
          "referenceAllele": "P",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_001308197.1:p.Pro218Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279550",
          "hgvs": "NM_001321268.1:c.652C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625063"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214362[alleleid]",
        "alleleId": 214362,
        "preferredName": "NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217681",
        "RCV": [
          "RCV000201767"
        ],
        "variationId": 217681
      }
    ]
  },
  "type": "amino-acid"
}