{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828433074",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 706,
          "referenceAllele": "V",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_001357395.1:p.Val706Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10590111",
          "hgvs": "NM_001370466.1:c.2116G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA395871303",
          "hgvs": "NM_001370466.1:c.2116G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707504"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=262394[alleleid]",
        "alleleId": 262394,
        "preferredName": "NM_022162.2(NOD2):c.2197G>T (p.Val733Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267319",
        "RCV": [
          "RCV000258056"
        ],
        "variationId": 267319
      }
    ]
  },
  "type": "amino-acid"
}