{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826250811",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039430",
      "geneNCBI_id": 340900,
      "geneSymbol": "EBLN1",
      "hgvs": [
        "NP_001186867.1:p.Ala218Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5435947",
          "hgvs": "NM_001199938.2:c.653C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157736"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2194986[alleleid]",
        "alleleId": 2194986,
        "preferredName": "NM_001394757.1(EBLN1):c.653C>T (p.Ala218Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2212839",
        "RCV": [
          "RCV004077551"
        ],
        "variationId": 2212839
      }
    ]
  },
  "type": "amino-acid"
}