{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828072315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 130,
          "referenceAllele": "L",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NP_001349861.1:p.Leu130Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116689",
          "hgvs": "NM_001362932.2:c.388C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625667"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19239[alleleid]",
        "alleleId": 19239,
        "preferredName": "NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4200",
        "RCV": [
          "RCV000004420",
          "RCV000034153",
          "RCV000033147",
          "RCV000439841",
          "RCV000414821",
          "RCV000779562",
          "RCV000789780",
          "RCV002362562",
          "RCV002496254"
        ],
        "variationId": 4200
      }
    ]
  },
  "type": "amino-acid"
}