{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037587",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 245,
          "referenceAllele": "V",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Val245Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229724",
          "hgvs": "NM_001354304.2:c.733G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386295775",
          "hgvs": "NM_001354304.2:c.733G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580614529",
          "hgvs": "NM_001354304.2:c.733_735delinsCTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108546[alleleid]",
        "alleleId": 108546,
        "preferredName": "NM_000277.3(PAH):c.733G>C (p.Val245Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2668820[alleleid]",
        "alleleId": 2668820,
        "preferredName": "NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102810",
        "RCV": [
          "RCV000089063",
          "RCV000340479"
        ],
        "variationId": 102810
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2503911",
        "RCV": [
          "RCV003230902"
        ],
        "variationId": 2503911
      }
    ]
  },
  "type": "amino-acid"
}