{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827310639",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80,
          "referenceAllele": "W",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_001317326.1:p.Trp80Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400327736",
          "hgvs": "NM_001330397.2:c.240G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400327737",
          "hgvs": "NM_001330397.2:c.240G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624596"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243896[alleleid]",
        "alleleId": 243896,
        "preferredName": "NM_017777.4(MKS1):c.240G>T (p.Trp80Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242344",
        "RCV": [
          "RCV000491898"
        ],
        "variationId": 242344
      }
    ]
  },
  "type": "amino-acid"
}