{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828432684",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 241,
          "referenceAllele": "P",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_001357395.1:p.Pro241Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051397",
          "hgvs": "NM_001370466.1:c.721C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707504"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341620[alleleid]",
        "alleleId": 341620,
        "preferredName": "NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319435",
        "RCV": [
          "RCV000278144",
          "RCV000455970",
          "RCV001782799",
          "RCV001812842",
          "RCV002261057",
          "RCV002521024"
        ],
        "variationId": 319435
      }
    ]
  },
  "type": "amino-acid"
}