{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573278454",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_071445.1:p.Ala597Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051626",
          "hgvs": "NM_022162.3:c.1790C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177781"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1386724[alleleid]",
        "alleleId": 1386724,
        "preferredName": "NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1391926",
        "RCV": [
          "RCV001882057",
          "RCV002261409",
          "RCV002553615"
        ],
        "variationId": 1391926
      }
    ]
  },
  "type": "amino-acid"
}