{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "M",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NP_001121699.1:p.Met743Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253679",
          "hgvs": "NM_001128227.3:c.2228T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21064[alleleid]",
        "alleleId": 21064,
        "preferredName": "NM_005476.7(GNE):c.2135T>C (p.Met712Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6025",
        "RCV": [
          "RCV000006396",
          "RCV000443895",
          "RCV000763615",
          "RCV001705582"
        ],
        "variationId": 6025
      }
    ]
  },
  "type": "amino-acid"
}