{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 45,
          "referenceAllele": "I",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000638",
      "geneNCBI_id": 362,
      "geneSymbol": "AQP5",
      "hgvs": [
        "NP_001642.1:p.Ile45Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144809",
          "hgvs": "NM_001651.4:c.134T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167545"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76391[alleleid]",
        "alleleId": 76391,
        "preferredName": "NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65480",
        "RCV": [
          "RCV000055670"
        ],
        "variationId": 65480
      }
    ]
  },
  "type": "amino-acid"
}