{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828100396",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14,
          "referenceAllele": "I",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NP_001350548.1:p.Ile14Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6536834",
          "hgvs": "NM_001363619.2:c.41T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625883"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=725111[alleleid]",
        "alleleId": 725111,
        "preferredName": "NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/707828",
        "RCV": [
          "RCV000878987",
          "RCV003948282"
        ],
        "variationId": 707828
      }
    ]
  },
  "type": "amino-acid"
}