{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913196017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3801,
          "referenceAllele": "M",
          "start": 3800
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_003482.4:c.11401A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384719091",
          "hgvs": "NM_003482.4:c.11401A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584959[alleleid]",
        "alleleId": 584959,
        "preferredName": "NM_003482.4(KMT2D):c.11401A>C (p.Met3801Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1360598[alleleid]",
        "alleleId": 1360598,
        "preferredName": "NM_003482.4(KMT2D):c.11401A>T (p.Met3801Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593896",
        "RCV": [
          "RCV000729065",
          "RCV001862165"
        ],
        "variationId": 593896
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1358437",
        "RCV": [
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        ],
        "variationId": 1358437
      }
    ]
  },
  "type": "amino-acid"
}