{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830149479",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1180,
          "referenceAllele": "E",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476508.2:p.Glu1180Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203744",
          "hgvs": "NM_057167.4:c.3538G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180580"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134268[alleleid]",
        "alleleId": 134268,
        "preferredName": "NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128819",
        "RCV": [
          "RCV000180594",
          "RCV000304466",
          "RCV000224823",
          "RCV001081946",
          "RCV001358668",
          "RCV004549581"
        ],
        "variationId": 128819
      }
    ]
  },
  "type": "amino-acid"
}