{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 172,
          "referenceAllele": "Q",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Gln172His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6748897",
          "hgvs": "NM_001354304.2:c.516G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386297046",
          "hgvs": "NM_001354304.2:c.516G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=640587[alleleid]",
        "alleleId": 640587,
        "preferredName": "NM_000277.3(PAH):c.516G>T (p.Gln172His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=839252[alleleid]",
        "alleleId": 839252,
        "preferredName": "NM_000277.3(PAH):c.516G>C (p.Gln172His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/664621",
        "RCV": [
          "RCV000822749",
          "RCV001574524",
          "RCV003243346"
        ],
        "variationId": 664621
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/845708",
        "RCV": [
          "RCV001048823",
          "RCV004545029"
        ],
        "variationId": 845708
      }
    ]
  },
  "type": "amino-acid"
}