{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825788418",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 352,
          "referenceAllele": "T",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002180",
      "geneNCBI_id": 1690,
      "geneSymbol": "COCH",
      "hgvs": [
        "NP_001128530.1:p.Thr352Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7143257",
          "hgvs": "NM_001135058.2:c.1055C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389348169",
          "hgvs": "NM_001135058.2:c.1054A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152819"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230521[alleleid]",
        "alleleId": 230521,
        "preferredName": "NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226525",
        "RCV": [
          "RCV000221727",
          "RCV000616871",
          "RCV001582722",
          "RCV002054369"
        ],
        "variationId": 226525
      }
    ]
  },
  "type": "amino-acid"
}