{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827058653",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NP_001307798.1:p.Met1Leu"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3001728[alleleid]",
        "alleleId": 3001728,
        "preferredName": "NM_014297.5(ETHE1):c.1A>C (p.Met1Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2833401",
        "RCV": [
          "RCV003604501"
        ],
        "variationId": 2833401
      }
    ]
  },
  "type": "amino-acid"
}