{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828325407",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 207,
          "referenceAllele": "V",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001356320.1:p.Val207Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170394",
          "hgvs": "NM_001369391.2:c.619G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45156[alleleid]",
        "alleleId": 45156,
        "preferredName": "NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36494",
        "RCV": [
          "RCV000030166",
          "RCV000133270",
          "RCV002371791",
          "RCV002274901"
        ],
        "variationId": 36494
      }
    ]
  },
  "type": "amino-acid"
}