{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830172598",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NP_570712.2:p.Cys246Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381184474",
          "hgvs": "NM_130800.3:c.736T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS822917"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3395331[alleleid]",
        "alleleId": 3395331,
        "preferredName": "NM_001370259.2(MEN1):c.721T>G (p.Cys241Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3236212",
        "RCV": [
          "RCV004555468"
        ],
        "variationId": 3236212
      }
    ]
  },
  "type": "amino-acid"
}