{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA344269",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 164,
          "referenceAllele": "F",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NP_060551.2:p.Phe164Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344267",
          "hgvs": "NM_018081.2:c.492C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397860911",
          "hgvs": "NM_018081.2:c.490T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397860924",
          "hgvs": "NM_018081.2:c.492C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175960"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49676[alleleid]",
        "alleleId": 49676,
        "preferredName": "NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41252",
        "RCV": [
          "RCV000034152",
          "RCV000439983"
        ],
        "variationId": 41252
      }
    ]
  },
  "type": "amino-acid"
}