{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501796",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NP_004399.2:p.Gly346Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618753",
          "hgvs": "NM_004408.4:c.1037G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407551[alleleid]",
        "alleleId": 407551,
        "preferredName": "NM_004408.4(DNM1):c.1037G>T (p.Gly346Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421089",
        "RCV": [
          "RCV000486368"
        ],
        "variationId": 421089
      }
    ]
  },
  "type": "amino-acid"
}