{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658664396",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "S",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NP_003915.2:p.Ser76Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2901598",
          "hgvs": "NM_003924.4:c.227G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=473769[alleleid]",
        "alleleId": 473769,
        "preferredName": "NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486030",
        "RCV": [
          "RCV000565021",
          "RCV000643944",
          "RCV000764535",
          "RCV002510925",
          "RCV003471903",
          "RCV003945354"
        ],
        "variationId": 486030
      }
    ]
  },
  "type": "amino-acid"
}