{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3071044974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 16,
          "referenceAllele": "S",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NP_000103.2:p.Ser16Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA361703853",
          "hgvs": "NM_000112.4:c.47C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146663"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4946520[alleleid]",
        "alleleId": 4946520,
        "preferredName": "NM_000112.4(SLC26A2):c.47C>T (p.Ser16Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4828160",
        "RCV": [
          "RCV006669082"
        ],
        "variationId": 4828160
      }
    ]
  },
  "type": "amino-acid"
}