{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA133885",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 312,
          "referenceAllele": "D",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001918.3:p.Asp312Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA133883",
          "hgvs": "NM_001927.4:c.934G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53441[alleleid]",
        "alleleId": 53441,
        "preferredName": "NM_001927.4(DES):c.934G>A (p.Asp312Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44274",
        "RCV": [
          "RCV000056815",
          "RCV000245347",
          "RCV000475003",
          "RCV000770171",
          "RCV001137623",
          "RCV001137622",
          "RCV001293064",
          "RCV002265577"
        ],
        "variationId": 44274
      }
    ]
  },
  "type": "amino-acid"
}