{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580253039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 203,
          "referenceAllele": "R",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "NP_001946.3:p.Arg203His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134218085",
          "hgvs": "NM_001955.5:c.608G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167836"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1928639[alleleid]",
        "alleleId": 1928639,
        "preferredName": "NM_001955.5(EDN1):c.608G>A (p.Arg203His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2191668",
        "RCV": [
          "RCV002620718"
        ],
        "variationId": 2191668
      }
    ]
  },
  "type": "amino-acid"
}