{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037586",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "V",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Val245Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114372",
          "hgvs": "NM_001354304.2:c.734T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA312809",
          "hgvs": "NM_001354304.2:c.734_735delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15671[alleleid]",
        "alleleId": 15671,
        "preferredName": "NM_000277.3(PAH):c.734T>C (p.Val245Ala)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200223[alleleid]",
        "alleleId": 200223,
        "preferredName": "NM_000277.3(PAH):c.734_735inv (p.Val245Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632",
        "RCV": [
          "RCV000000664",
          "RCV000089065",
          "RCV000346938",
          "RCV002512615"
        ],
        "variationId": 632
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203874",
        "RCV": [
          "RCV000186078"
        ],
        "variationId": 203874
      }
    ]
  },
  "type": "amino-acid"
}