{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828072301",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 117,
          "referenceAllele": "R",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NP_001349861.1:p.Arg117Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253046",
          "hgvs": "NM_001362932.2:c.351A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371549672",
          "hgvs": "NM_001362932.2:c.351A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625667"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19243[alleleid]",
        "alleleId": 19243,
        "preferredName": "NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625183[alleleid]",
        "alleleId": 625183,
        "preferredName": "NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4204",
        "RCV": [
          "RCV000004424",
          "RCV003447067"
        ],
        "variationId": 4204
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637114",
        "RCV": [
          "RCV000789152",
          "RCV003447186"
        ],
        "variationId": 637114
      }
    ]
  },
  "type": "amino-acid"
}