{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573240590",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 500,
          "referenceAllele": "R",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "NP_005899.3:p.Arg500His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3026873",
          "hgvs": "NM_005908.4:c.1499G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171499"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1505273[alleleid]",
        "alleleId": 1505273,
        "preferredName": "NM_005908.4(MANBA):c.1499G>A (p.Arg500His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1515408",
        "RCV": [
          "RCV002048507"
        ],
        "variationId": 1515408
      }
    ]
  },
  "type": "amino-acid"
}