{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA095614",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029077",
      "geneNCBI_id": 9742,
      "geneSymbol": "IFT140",
      "hgvs": [
        "NP_055529.2:p.Gly212Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129889",
          "hgvs": "NM_014714.4:c.634G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394220095",
          "hgvs": "NM_014714.4:c.634G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173937"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40345[alleleid]",
        "alleleId": 40345,
        "preferredName": "NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31683",
        "RCV": [
          "RCV000024363",
          "RCV000255441",
          "RCV000515934",
          "RCV001328311",
          "RCV000626465",
          "RCV001249674"
        ],
        "variationId": 31683
      }
    ]
  },
  "type": "amino-acid"
}