{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829480722",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 260,
          "referenceAllele": "V",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NP_003982.1:p.Val260Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7012261",
          "hgvs": "NM_003991.4:c.778G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169736"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=497032[alleleid]",
        "alleleId": 497032,
        "preferredName": "NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504853",
        "RCV": [
          "RCV000839975",
          "RCV000614742",
          "RCV001111746"
        ],
        "variationId": 504853
      }
    ]
  },
  "type": "amino-acid"
}