{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828551184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 166,
          "referenceAllele": "D",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NP_001361727.1:p.Asp166Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253703",
          "hgvs": "NM_001374798.1:c.496G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706317"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21070[alleleid]",
        "alleleId": 21070,
        "preferredName": "NM_005476.7(GNE):c.673G>A (p.Asp225Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6031",
        "RCV": [
          "RCV000006402",
          "RCV000594042",
          "RCV001383000"
        ],
        "variationId": 6031
      }
    ]
  },
  "type": "amino-acid"
}