{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094913",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 182,
          "referenceAllele": "Q",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "NP_055400.1:p.Gln182His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117521",
          "hgvs": "NM_014585.6:c.546G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349988959",
          "hgvs": "NM_014585.6:c.546G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173819"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20452[alleleid]",
        "alleleId": 20452,
        "preferredName": "NM_014585.6(SLC40A1):c.546G>T (p.Gln182His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5413",
        "RCV": [
          "RCV000005746"
        ],
        "variationId": 5413
      }
    ]
  },
  "type": "amino-acid"
}