{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827346052",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 106,
          "referenceAllele": "D",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_001317678.1:p.Asp106Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5175034",
          "hgvs": "NM_001330749.2:c.317A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624935"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243834[alleleid]",
        "alleleId": 243834,
        "preferredName": "NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242315",
        "RCV": [
          "RCV000227222",
          "RCV001276239",
          "RCV003230264",
          "RCV004020906"
        ],
        "variationId": 242315
      }
    ]
  },
  "type": "amino-acid"
}