{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828327522",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001356322.1:p.Ala350Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199489",
          "hgvs": "NM_001369393.2:c.1048G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709831"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45153[alleleid]",
        "alleleId": 45153,
        "preferredName": "NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36491",
        "RCV": [
          "RCV000170261",
          "RCV000415982",
          "RCV000438624",
          "RCV001079728",
          "RCV001251833",
          "RCV002381273",
          "RCV002472321",
          "RCV004541028"
        ],
        "variationId": 36491
      }
    ]
  },
  "type": "amino-acid"
}