{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826253627",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 107,
          "referenceAllele": "L",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NP_001188326.1:p.Leu107Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7012405",
          "hgvs": "NM_001201397.1:c.319C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230454[alleleid]",
        "alleleId": 230454,
        "preferredName": "NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226623",
        "RCV": [
          "RCV000221012",
          "RCV000297140",
          "RCV000897477"
        ],
        "variationId": 226623
      }
    ]
  },
  "type": "amino-acid"
}