{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139717944",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1248,
          "referenceAllele": "D",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NP_004406.2:p.Asp1248Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA133968702",
          "hgvs": "NM_004415.4:c.3742G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=910356[alleleid]",
        "alleleId": 910356,
        "preferredName": "NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/922143",
        "RCV": [
          "RCV001182040",
          "RCV002286816",
          "RCV002348613",
          "RCV002480608",
          "RCV001876050"
        ],
        "variationId": 922143
      }
    ]
  },
  "type": "amino-acid"
}