{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096035",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "M",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NP_000152.1:p.Met221Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120278",
          "hgvs": "NM_000161.3:c.662T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24320[alleleid]",
        "alleleId": 24320,
        "preferredName": "NM_000161.3(GCH1):c.662T>C (p.Met221Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9281",
        "RCV": [
          "RCV001260617",
          "RCV001851776",
          "RCV002223756",
          "RCV002508112"
        ],
        "variationId": 9281
      }
    ]
  },
  "type": "amino-acid"
}