{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825380853",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 175,
          "referenceAllele": "R",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NP_001032626.1:p.Arg175Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118904",
          "hgvs": "NM_001037537.2:c.523C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149756"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22619[alleleid]",
        "alleleId": 22619,
        "preferredName": "NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7580",
        "RCV": [
          "RCV000008018",
          "RCV000255609",
          "RCV000505105",
          "RCV000665657",
          "RCV002426496"
        ],
        "variationId": 7580
      }
    ]
  },
  "type": "amino-acid"
}