{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102291",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 279,
          "referenceAllele": "R",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NP_000103.2:p.Arg279Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252990",
          "hgvs": "NM_000112.4:c.835C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146663"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19128[alleleid]",
        "alleleId": 19128,
        "preferredName": "NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4089",
        "RCV": [
          "RCV000004305",
          "RCV000004306",
          "RCV000004307",
          "RCV000266165",
          "RCV000275762",
          "RCV000624686",
          "RCV000641290",
          "RCV000586600",
          "RCV000999764",
          "RCV001030752",
          "RCV001030753",
          "RCV002276530"
        ],
        "variationId": 4089
      }
    ]
  },
  "type": "amino-acid"
}