{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826851433",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 43,
          "referenceAllele": "H",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006967",
      "geneNCBI_id": 4188,
      "geneSymbol": "MDFI",
      "hgvs": [
        "NP_001287735.1:p.His43Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3801009",
          "hgvs": "NM_001300806.2:c.129C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA364074976",
          "hgvs": "NM_001300806.2:c.129C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2370162[alleleid]",
        "alleleId": 2370162,
        "preferredName": "NM_005586.4(MDFI):c.129C>A (p.His43Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2375848",
        "RCV": [
          "RCV004211044"
        ],
        "variationId": 2375848
      }
    ]
  },
  "type": "amino-acid"
}