{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829550793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "P",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002974",
      "geneNCBI_id": 1785,
      "geneSymbol": "DNM2",
      "hgvs": [
        "NP_004936.2:p.Pro623Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588681",
          "hgvs": "NM_004945.4:c.1867C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260206[alleleid]",
        "alleleId": 260206,
        "preferredName": "NM_001005361.3(DNM2):c.1879C>G (p.Pro627Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265656",
        "RCV": [
          "RCV000255790"
        ],
        "variationId": 265656
      }
    ]
  },
  "type": "amino-acid"
}