{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139689745",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 509,
          "referenceAllele": "S",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NP_001188326.1:p.Ser509Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7012153",
          "hgvs": "NM_001201397.1:c.1526C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=871511[alleleid]",
        "alleleId": 871511,
        "preferredName": "NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/880862",
        "RCV": [
          "RCV001109432",
          "RCV001862874"
        ],
        "variationId": 880862
      }
    ]
  },
  "type": "amino-acid"
}