{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915997029",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 522,
          "referenceAllele": "R",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002974",
      "geneNCBI_id": 1785,
      "geneSymbol": "DNM2",
      "hgvs": [
        "NP_001177645.1:p.Arg522His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172101",
          "hgvs": "NM_001190716.1:c.1565G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169461[alleleid]",
        "alleleId": 169461,
        "preferredName": "NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158514",
        "RCV": [
          "RCV000145903",
          "RCV000275646",
          "RCV000552861",
          "RCV000679888",
          "RCV002252002"
        ],
        "variationId": 158514
      }
    ]
  },
  "type": "amino-acid"
}