{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA127497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 38,
          "referenceAllele": "P",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NP_932766.1:p.Pro38Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127496",
          "hgvs": "NM_198098.4:c.113C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32886[alleleid]",
        "alleleId": 32886,
        "preferredName": "NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17847",
        "RCV": [
          "RCV000019425"
        ],
        "variationId": 17847
      }
    ]
  },
  "type": "amino-acid"
}