{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117910",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NP_003915.2:p.Gly197Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117908",
          "hgvs": "NM_003924.4:c.590G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21053[alleleid]",
        "alleleId": 21053,
        "preferredName": "NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6014",
        "RCV": [
          "RCV000006385",
          "RCV002354150"
        ],
        "variationId": 6014
      }
    ]
  },
  "type": "amino-acid"
}