{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916069222",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 250,
          "referenceAllele": "P",
          "start": 249
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      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_075254.1:p.Pro250Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA159700",
          "hgvs": "NM_022965.4:c.749C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3260261067",
          "hgvs": "NM_022965.4:c.749_750delinsGC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31379[alleleid]",
        "alleleId": 31379,
        "preferredName": "NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4830113[alleleid]",
        "alleleId": 4830113,
        "preferredName": "NM_000142.5(FGFR3):c.749_750delinsGC (p.Pro250Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16340",
        "RCV": [
          "RCV000017747",
          "RCV000017746",
          "RCV000121075",
          "RCV000193831",
          "RCV000436385",
          "RCV000626772",
          "RCV000622712",
          "RCV000987393",
          "RCV001334261",
          "RCV001813993",
          "RCV002273933",
          "RCV002476986",
          "RCV003483434",
          "RCV004554603"
        ],
        "variationId": 16340
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4719788",
        "RCV": [
          "RCV006507607"
        ],
        "variationId": 4719788
      }
    ]
  },
  "type": "amino-acid"
}