{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825331909",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NP_001019195.1:p.Gly108Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120279",
          "hgvs": "NM_001024024.2:c.323G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149209"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24321[alleleid]",
        "alleleId": 24321,
        "preferredName": "NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9282",
        "RCV": [
          "RCV000634833",
          "RCV001659690",
          "RCV002508113"
        ],
        "variationId": 9282
      }
    ]
  },
  "type": "amino-acid"
}