{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827931632",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 744,
          "referenceAllele": "R",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NP_001341669.1:p.Arg744His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6537526",
          "hgvs": "NM_001354740.1:c.2231G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625383"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254585[alleleid]",
        "alleleId": 254585,
        "preferredName": "NM_000289.6(PFKM):c.2087G>A (p.Arg696His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/255756",
        "RCV": [
          "RCV000251357",
          "RCV000631186",
          "RCV000675441"
        ],
        "variationId": 255756
      }
    ]
  },
  "type": "amino-acid"
}