{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830162381",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 180,
          "referenceAllele": "D",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002190",
      "geneNCBI_id": 1305,
      "geneSymbol": "COL13A1",
      "hgvs": [
        "NP_542990.3:p.Asp180Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5534259",
          "hgvs": "NM_080800.4:c.540C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376931995",
          "hgvs": "NM_080800.4:c.540C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017305[alleleid]",
        "alleleId": 1017305,
        "preferredName": "NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031125",
        "RCV": [
          "RCV001332872",
          "RCV001865769",
          "RCV002546603"
        ],
        "variationId": 1031125
      }
    ]
  },
  "type": "amino-acid"
}