{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057571484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 232,
          "referenceAllele": "Q",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Gln232His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6748880",
          "hgvs": "NM_001354304.2:c.696G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386296555",
          "hgvs": "NM_001354304.2:c.696G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3544287[alleleid]",
        "alleleId": 3544287,
        "preferredName": "NM_000277.3(PAH):c.696G>C (p.Gln232His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4493375[alleleid]",
        "alleleId": 4493375,
        "preferredName": "NM_000277.3(PAH):c.696G>T (p.Gln232His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3385145",
        "RCV": [
          "RCV004800767"
        ],
        "variationId": 3385145
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4378735",
        "RCV": [
          "RCV006055737"
        ],
        "variationId": 4378735
      }
    ]
  },
  "type": "amino-acid"
}