{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826227523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 223,
          "referenceAllele": "Q",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NP_001185616.1:p.Gln223Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119663",
          "hgvs": "NM_001198687.2:c.668A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157287"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23560[alleleid]",
        "alleleId": 23560,
        "preferredName": "NM_002303.6(LEPR):c.668A>G (p.Gln223Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8521",
        "RCV": [
          "RCV000009047",
          "RCV000281795",
          "RCV000348520",
          "RCV000518727",
          "RCV001668124"
        ],
        "variationId": 8521
      }
    ]
  },
  "type": "amino-acid"
}