{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 51,
          "referenceAllele": "P",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002180",
      "geneNCBI_id": 1690,
      "geneSymbol": "COCH",
      "hgvs": [
        "NP_004077.1:p.Pro51Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253889",
          "hgvs": "NM_004086.3:c.151C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169820"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21650[alleleid]",
        "alleleId": 21650,
        "preferredName": "NM_004086.3(COCH):c.151C>T (p.Pro51Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6611",
        "RCV": [
          "RCV000006990",
          "RCV000211754",
          "RCV000844626",
          "RCV001093033",
          "RCV001375055"
        ],
        "variationId": 6611
      }
    ]
  },
  "type": "amino-acid"
}