{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 390,
          "referenceAllele": "M",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "NP_078925.3:p.Met390Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA223760",
          "hgvs": "NM_024649.5:c.1169T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178426"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27182[alleleid]",
        "alleleId": 27182,
        "preferredName": "NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12143",
        "RCV": [
          "RCV000012926",
          "RCV000082202",
          "RCV000174408",
          "RCV000210319",
          "RCV000504693",
          "RCV000787785",
          "RCV002251900",
          "RCV002513000",
          "RCV003390672"
        ],
        "variationId": 12143
      }
    ]
  },
  "type": "amino-acid"
}