{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129655",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 597,
          "referenceAllele": "L",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "NP_000411.1:p.Leu597Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129654",
          "hgvs": "NM_000420.3:c.1790T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40039[alleleid]",
        "alleleId": 40039,
        "preferredName": "NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31082",
        "RCV": [
          "RCV000024078",
          "RCV000514536"
        ],
        "variationId": 31082
      }
    ]
  },
  "type": "amino-acid"
}