{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827058508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 185,
          "referenceAllele": "D",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NP_001307796.1:p.Asp185His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406175112",
          "hgvs": "NM_001320867.2:c.553G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837409[alleleid]",
        "alleleId": 2837409,
        "preferredName": "NM_014297.5(ETHE1):c.586G>C (p.Asp196His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675146",
        "RCV": [
          "RCV003476399"
        ],
        "variationId": 2675146
      }
    ]
  },
  "type": "amino-acid"
}