{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA350100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1752,
          "referenceAllele": "K",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NP_001035957.1:p.Lys1752Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350098",
          "hgvs": "NM_001042492.3:c.5255A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150194"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222613[alleleid]",
        "alleleId": 222613,
        "preferredName": "NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220078",
        "RCV": [
          "RCV000206031",
          "RCV000761161",
          "RCV001753612",
          "RCV002317736"
        ],
        "variationId": 220078
      }
    ]
  },
  "type": "amino-acid"
}