{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828327776",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "R",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001356323.1:p.Arg213Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212529",
          "hgvs": "NM_001369394.2:c.637C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709581"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26863[alleleid]",
        "alleleId": 26863,
        "preferredName": "NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11824",
        "RCV": [
          "RCV000012597",
          "RCV000081218",
          "RCV000224156",
          "RCV000202468",
          "RCV000466020",
          "RCV002287332",
          "RCV001841244",
          "RCV002444428",
          "RCV002273927",
          "RCV003224093",
          "RCV004532325"
        ],
        "variationId": 11824
      }
    ]
  },
  "type": "amino-acid"
}