{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826812049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 544,
          "referenceAllele": "R",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NP_001278797.1:p.Arg544His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10358702",
          "hgvs": "NM_001291868.2:c.1631G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2110592[alleleid]",
        "alleleId": 2110592,
        "preferredName": "NM_001291867.2(NHS):c.2225G>A (p.Arg742His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2047522",
        "RCV": [
          "RCV002904367",
          "RCV002904368"
        ],
        "variationId": 2047522
      }
    ]
  },
  "type": "amino-acid"
}