{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825187091",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 59,
          "referenceAllele": "H",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NP_000523.2:p.His59Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354738130",
          "hgvs": "NM_000532.5:c.175C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147067"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2088206[alleleid]",
        "alleleId": 2088206,
        "preferredName": "NM_000532.5(PCCB):c.175C>A (p.His59Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2026450",
        "RCV": [
          "RCV002858392"
        ],
        "variationId": 2026450
      }
    ]
  },
  "type": "amino-acid"
}