{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101113",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 194,
          "referenceAllele": "R",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004236",
      "geneNCBI_id": 2671,
      "geneSymbol": "GFER",
      "hgvs": [
        "NP_005253.3:p.Arg194His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119839",
          "hgvs": "NM_005262.3:c.581G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170909"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23730[alleleid]",
        "alleleId": 23730,
        "preferredName": "NM_005262.3(GFER):c.581G>A (p.Arg194His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8691",
        "RCV": [
          "RCV000009228",
          "RCV000199876",
          "RCV000624237"
        ],
        "variationId": 8691
      }
    ]
  },
  "type": "amino-acid"
}