{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830399878",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 484,
          "referenceAllele": "D",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NP_861968.1:p.Asp484Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10175568",
          "hgvs": "NM_181830.3:c.1452C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411150407",
          "hgvs": "NM_181830.3:c.1452C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184404"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=470130[alleleid]",
        "alleleId": 470130,
        "preferredName": "NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/457904",
        "RCV": [
          "RCV000557509",
          "RCV001012778",
          "RCV000765631"
        ],
        "variationId": 457904
      }
    ]
  },
  "type": "amino-acid"
}