{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828071891",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 173,
          "referenceAllele": "P",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NP_001349859.1:p.Pro173Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253042",
          "hgvs": "NM_001362930.2:c.518C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625404"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19241[alleleid]",
        "alleleId": 19241,
        "preferredName": "NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4202",
        "RCV": [
          "RCV000004422",
          "RCV000214299",
          "RCV000703370",
          "RCV000857208",
          "RCV002362563"
        ],
        "variationId": 4202
      }
    ]
  },
  "type": "amino-acid"
}