{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA295304",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 836,
          "referenceAllele": "F",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NP_001840.3:p.Phe836Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA295302",
          "hgvs": "NM_001849.4:c.2508C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410548172",
          "hgvs": "NM_001849.4:c.2506T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410548177",
          "hgvs": "NM_001849.4:c.2508C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172273[alleleid]",
        "alleleId": 172273,
        "preferredName": "NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162545",
        "RCV": [
          "RCV000525095"
        ],
        "variationId": 162545
      }
    ]
  },
  "type": "amino-acid"
}