{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645427218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "A",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NP_003915.2:p.Ala254Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2901440",
          "hgvs": "NM_003924.4:c.760G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239362[alleleid]",
        "alleleId": 239362,
        "preferredName": "NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239594",
        "RCV": [
          "RCV000228402",
          "RCV001026621",
          "RCV001145120",
          "RCV001358783",
          "RCV003422142",
          "RCV003153530"
        ],
        "variationId": 239594
      }
    ]
  },
  "type": "amino-acid"
}