{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645383232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2060,
          "referenceAllele": "M",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NP_998820.3:p.Met2060Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6383167",
          "hgvs": "NM_213655.5:c.6180G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA383333300",
          "hgvs": "NM_213655.5:c.6180G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA383333301",
          "hgvs": "NM_213655.5:c.6180G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186136"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254768[alleleid]",
        "alleleId": 254768,
        "preferredName": "NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261073",
        "RCV": [
          "RCV000250212",
          "RCV000355246",
          "RCV000576491",
          "RCV001514635",
          "RCV001640562"
        ],
        "variationId": 261073
      }
    ]
  },
  "type": "amino-acid"
}