{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645427219",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NP_003915.2:p.Ala258Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2901428",
          "hgvs": "NM_003924.4:c.773C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298468[alleleid]",
        "alleleId": 298468,
        "preferredName": "NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348809",
        "RCV": [
          "RCV000268582",
          "RCV000323710",
          "RCV001507229",
          "RCV001026770",
          "RCV003228923",
          "RCV003151040"
        ],
        "variationId": 348809
      }
    ]
  },
  "type": "amino-acid"
}