{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645494177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 189,
          "referenceAllele": "T",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_071445.1:p.Thr189Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051320",
          "hgvs": "NM_022162.3:c.566C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177781"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341618[alleleid]",
        "alleleId": 341618,
        "preferredName": "NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319431",
        "RCV": [
          "RCV000585590",
          "RCV001121630",
          "RCV001782795",
          "RCV002263011",
          "RCV002521021"
        ],
        "variationId": 319431
      }
    ]
  },
  "type": "amino-acid"
}