{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828048008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 458,
          "referenceAllele": "L",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NP_001342145.1:p.Leu458Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA037424",
          "hgvs": "NM_001355216.1:c.1373T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397824[alleleid]",
        "alleleId": 397824,
        "preferredName": "NM_020975.6(RET):c.2135T>C (p.Leu712Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405531",
        "RCV": [
          "RCV000465229",
          "RCV003470404"
        ],
        "variationId": 405531
      }
    ]
  },
  "type": "amino-acid"
}