{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037485",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 170,
          "referenceAllele": "H",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.His170Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229597",
          "hgvs": "NM_001354304.2:c.510T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6748900",
          "hgvs": "NM_001354304.2:c.510T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108451[alleleid]",
        "alleleId": 108451,
        "preferredName": "NM_000277.3(PAH):c.510T>A (p.His170Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=926450[alleleid]",
        "alleleId": 926450,
        "preferredName": "NM_000277.3(PAH):c.510T>G (p.His170Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102715",
        "RCV": [
          "RCV000088963",
          "RCV001048510"
        ],
        "variationId": 102715
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/944625",
        "RCV": [
          "RCV001215065"
        ],
        "variationId": 944625
      }
    ]
  },
  "type": "amino-acid"
}