{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 131,
          "referenceAllele": "P",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003018",
      "geneNCBI_id": 1811,
      "geneSymbol": "SLC26A3",
      "hgvs": [
        "NP_000102.1:p.Pro131Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144099",
          "hgvs": "NM_000111.3:c.392C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146662"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70639[alleleid]",
        "alleleId": 70639,
        "preferredName": "NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56000",
        "RCV": [
          "RCV000049409",
          "RCV003556127"
        ],
        "variationId": 56000
      }
    ]
  },
  "type": "amino-acid"
}