{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825584956",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "W",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NP_001116131.1:p.Trp276Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126743",
          "hgvs": "NM_001122659.3:c.828G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388452161",
          "hgvs": "NM_001122659.3:c.828G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31672[alleleid]",
        "alleleId": 31672,
        "preferredName": "NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16633",
        "RCV": [
          "RCV000018113",
          "RCV000018112",
          "RCV003236768"
        ],
        "variationId": 16633
      }
    ]
  },
  "type": "amino-acid"
}