{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658826953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 448,
          "referenceAllele": "S",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NP_000432.1:p.Ser448Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4432795",
          "hgvs": "NM_000441.2:c.1343C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146984"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544042[alleleid]",
        "alleleId": 544042,
        "preferredName": "NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/549979",
        "RCV": [
          "RCV000664579",
          "RCV001061723",
          "RCV002499145",
          "RCV003472064"
        ],
        "variationId": 549979
      }
    ]
  },
  "type": "amino-acid"
}