{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA200169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 136,
          "referenceAllele": "S",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NP_001129141.1:p.Ser136Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA200168",
          "hgvs": "NM_001135669.2:c.407G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190097[alleleid]",
        "alleleId": 190097,
        "preferredName": "NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/192304",
        "RCV": [
          "RCV000172880"
        ],
        "variationId": 192304
      }
    ]
  },
  "type": "amino-acid"
}