{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825295924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1253,
          "referenceAllele": "R",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NP_001008844.1:p.Arg1253His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006544",
          "hgvs": "NM_001008844.3:c.3758G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44686[alleleid]",
        "alleleId": 44686,
        "preferredName": "NM_004415.4(DSP):c.5555G>A (p.Arg1852His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36022",
        "RCV": [
          "RCV000618287",
          "RCV000623709",
          "RCV000641842",
          "RCV000777717"
        ],
        "variationId": 36022
      }
    ]
  },
  "type": "amino-acid"
}