{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471915",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 56,
          "referenceAllele": "N",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NP_057126.2:p.Asn56His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5062844",
          "hgvs": "NM_016042.4:c.166A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=308360[alleleid]",
        "alleleId": 308360,
        "preferredName": "NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/366878",
        "RCV": [
          "RCV000418914",
          "RCV000874627",
          "RCV002523792",
          "RCV003902438"
        ],
        "variationId": 366878
      }
    ]
  },
  "type": "amino-acid"
}