{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094658",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1251,
          "referenceAllele": "S",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Ser1251Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325603",
          "hgvs": "NM_000492.4:c.3752G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22256[alleleid]",
        "alleleId": 22256,
        "preferredName": "NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7217",
        "RCV": [
          "RCV000007638",
          "RCV000211301",
          "RCV000506301",
          "RCV000780175",
          "RCV001826447",
          "RCV003466832"
        ],
        "variationId": 7217
      }
    ]
  },
  "type": "amino-acid"
}