{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580450754",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 209,
          "referenceAllele": "P",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_071445.1:p.Pro209Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051337",
          "hgvs": "NM_022162.3:c.626C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177781"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686551[alleleid]",
        "alleleId": 1686551,
        "preferredName": "NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694116",
        "RCV": [
          "RCV002261985",
          "RCV003774808"
        ],
        "variationId": 1694116
      }
    ]
  },
  "type": "amino-acid"
}