{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916055083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 80,
          "referenceAllele": "L",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NP_696997.1:p.Leu80Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA398268077",
          "hgvs": "NM_153322.3:c.239T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182852"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625389[alleleid]",
        "alleleId": 625389,
        "preferredName": "NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637845",
        "RCV": [
          "RCV000790176"
        ],
        "variationId": 637845
      }
    ]
  },
  "type": "amino-acid"
}