{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139669168",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 583,
          "referenceAllele": "Q",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NP_000118.2:p.Gln583His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4854018",
          "hgvs": "NM_000127.3:c.1749G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371878572",
          "hgvs": "NM_000127.3:c.1749G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=898778[alleleid]",
        "alleleId": 898778,
        "preferredName": "NM_000127.3(EXT1):c.1749G>C (p.Gln583His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/908080",
        "RCV": [
          "RCV001158361"
        ],
        "variationId": 908080
      }
    ]
  },
  "type": "amino-acid"
}