{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828756641",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "referenceAllele": "R",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "NP_001365302.1:p.Arg52Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123885",
          "hgvs": "NM_001378373.1:c.154C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737839"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29391[alleleid]",
        "alleleId": 29391,
        "preferredName": "NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14352",
        "RCV": [
          "RCV000015426",
          "RCV000991134",
          "RCV002274881"
        ],
        "variationId": 14352
      }
    ]
  },
  "type": "amino-acid"
}