{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828716224",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 315,
          "referenceAllele": "R",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NP_001364385.1:p.Arg315Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116928",
          "hgvs": "NM_001377456.1:c.943C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710374"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19612[alleleid]",
        "alleleId": 19612,
        "preferredName": "NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4573",
        "RCV": [
          "RCV000004835",
          "RCV000675099",
          "RCV001226053",
          "RCV001257834",
          "RCV003887853"
        ],
        "variationId": 4573
      }
    ]
  },
  "type": "amino-acid"
}