{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829565442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 379,
          "referenceAllele": "EHHHHHHHSESPKAP",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_004983.1:p.Glu365_Pro379del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609349",
          "hgvs": "NM_004992.4:c.1094_1138del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170660"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380321[alleleid]",
        "alleleId": 380321,
        "preferredName": "NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393486",
        "RCV": [
          "RCV000445564"
        ],
        "variationId": 393486
      }
    ]
  },
  "type": "amino-acid"
}