{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645421567",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 451,
          "referenceAllele": "H",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000091.5:c.1352A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499215725",
          "hgvs": "NM_000091.5:c.1352_1353delinsGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250637[alleleid]",
        "alleleId": 250637,
        "preferredName": "NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1090928[alleleid]",
        "alleleId": 1090928,
        "preferredName": "NM_000091.5(COL4A3):c.1352_1353inv (p.His451Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254979",
        "RCV": [
          "RCV000244910",
          "RCV000357978",
          "RCV000710808",
          "RCV001527244",
          "RCV002294096"
        ],
        "variationId": 254979
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1105036",
        "RCV": [
          "RCV001429296"
        ],
        "variationId": 1105036
      }
    ]
  },
  "type": "amino-acid"
}