{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA203212",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 185,
          "referenceAllele": "M",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NP_000284.1:p.Met185Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203211",
          "hgvs": "NM_000293.3:c.555G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396100134",
          "hgvs": "NM_000293.3:c.555G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396100136",
          "hgvs": "NM_000293.3:c.555G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146839"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195228[alleleid]",
        "alleleId": 195228,
        "preferredName": "NM_000293.3(PHKB):c.555G>T (p.Met185Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198067",
        "RCV": [
          "RCV000179286",
          "RCV000513729",
          "RCV001117558"
        ],
        "variationId": 198067
      }
    ]
  },
  "type": "amino-acid"
}