{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139689947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 480,
          "referenceAllele": "P",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NP_000074.3:p.Pro480Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369645355",
          "hgvs": "NM_000083.3:c.1438C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707337"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964284[alleleid]",
        "alleleId": 964284,
        "preferredName": "NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976182",
        "RCV": [
          "RCV001253400"
        ],
        "variationId": 976182
      }
    ]
  },
  "type": "amino-acid"
}