{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 335,
          "referenceAllele": "F",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NP_000432.1:p.Phe335Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253316",
          "hgvs": "NM_000441.2:c.1003T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368838312",
          "hgvs": "NM_000441.2:c.1005T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368838314",
          "hgvs": "NM_000441.2:c.1005T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146984"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19881[alleleid]",
        "alleleId": 19881,
        "preferredName": "NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4842",
        "RCV": [
          "RCV000005114",
          "RCV000036420",
          "RCV000576732",
          "RCV000656976",
          "RCV000824769",
          "RCV002291265"
        ],
        "variationId": 4842
      }
    ]
  },
  "type": "amino-acid"
}