{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139748743",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 332,
          "referenceAllele": "R",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NP_115964.2:p.Arg332His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7873163",
          "hgvs": "NM_032575.3:c.995G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843872[alleleid]",
        "alleleId": 843872,
        "preferredName": "NM_032575.3(GLIS2):c.995G>A (p.Arg332His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/860258",
        "RCV": [
          "RCV001066534",
          "RCV001120539",
          "RCV004030616"
        ],
        "variationId": 860258
      }
    ]
  },
  "type": "amino-acid"
}