{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499241140",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 402,
          "referenceAllele": "D",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NP_001171485.1:p.Asp402Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354648616",
          "hgvs": "NM_001178014.2:c.1206T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA354648618",
          "hgvs": "NM_001178014.2:c.1206T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059619[alleleid]",
        "alleleId": 1059619,
        "preferredName": "NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072009",
        "RCV": [
          "RCV001384626"
        ],
        "variationId": 1072009
      }
    ]
  },
  "type": "amino-acid"
}