{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826158111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "V",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NP_001177313.1:p.Val311Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16041316",
          "hgvs": "NM_001190384.3:c.932T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357798[alleleid]",
        "alleleId": 357798,
        "preferredName": "NM_005476.7(GNE):c.1262T>C (p.Val421Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370270",
        "RCV": [
          "RCV000410389",
          "RCV003766120"
        ],
        "variationId": 370270
      }
    ]
  },
  "type": "amino-acid"
}