{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828401603",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 383,
          "referenceAllele": "D",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NP_001357191.2:p.Asp383His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009091",
          "hgvs": "NM_001370262.2:c.1147G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS822879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197531[alleleid]",
        "alleleId": 197531,
        "preferredName": "NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201015",
        "RCV": [
          "RCV000182455",
          "RCV001044491"
        ],
        "variationId": 201015
      }
    ]
  },
  "type": "amino-acid"
}