{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828325916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 31,
          "referenceAllele": "L",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001356321.1:p.Leu31Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270369",
          "hgvs": "NM_001369392.2:c.93G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA270371",
          "hgvs": "NM_001369392.2:c.93G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709817"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153281[alleleid]",
        "alleleId": 153281,
        "preferredName": "NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153282[alleleid]",
        "alleleId": 153282,
        "preferredName": "NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143549",
        "RCV": [
          "RCV000133082"
        ],
        "variationId": 143549
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143550",
        "RCV": [
          "RCV000133083",
          "RCV001383621"
        ],
        "variationId": 143550
      }
    ]
  },
  "type": "amino-acid"
}