{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA281070",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1489,
          "referenceAllele": "G",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NP_000084.3:p.Gly1489Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281069",
          "hgvs": "NM_000093.5:c.4466G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146645"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32228[alleleid]",
        "alleleId": 32228,
        "preferredName": "NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17189",
        "RCV": [
          "RCV000018729"
        ],
        "variationId": 17189
      }
    ]
  },
  "type": "amino-acid"
}