{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106179",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 276,
          "referenceAllele": "M",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Met276Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229799",
          "hgvs": "NM_000277.3:c.828G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386294546",
          "hgvs": "NM_000277.3:c.828G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386294547",
          "hgvs": "NM_000277.3:c.828G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108595[alleleid]",
        "alleleId": 108595,
        "preferredName": "NM_000277.3(PAH):c.828G>T (p.Met276Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547151[alleleid]",
        "alleleId": 547151,
        "preferredName": "NM_000277.3(PAH):c.828G>A (p.Met276Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102859",
        "RCV": [
          "RCV000089120",
          "RCV001543637"
        ],
        "variationId": 102859
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551519",
        "RCV": [
          "RCV000666601"
        ],
        "variationId": 551519
      }
    ]
  },
  "type": "amino-acid"
}