{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827185474",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NP_001310009.1:p.Gly127Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5412260",
          "hgvs": "NM_001323080.2:c.379G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624675"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=865617[alleleid]",
        "alleleId": 865617,
        "preferredName": "NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/879441",
        "RCV": [
          "RCV001106948",
          "RCV001699508",
          "RCV002555045"
        ],
        "variationId": 879441
      }
    ]
  },
  "type": "amino-acid"
}