{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112610",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 570,
          "referenceAllele": "L",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002974",
      "geneNCBI_id": 1785,
      "geneSymbol": "DNM2",
      "hgvs": [
        "NP_001005360.1:p.Leu570His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118667",
          "hgvs": "NM_001005360.3:c.1709T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148174"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22323[alleleid]",
        "alleleId": 22323,
        "preferredName": "NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7284",
        "RCV": [
          "RCV000007707",
          "RCV000789619",
          "RCV003447078"
        ],
        "variationId": 7284
      }
    ]
  },
  "type": "amino-acid"
}