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    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "AG",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.146_147del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Arg49LysfsTer14",
        "hgvsWellDefined": "XP_024302751.1:p.[Arg49del;Lys51_Leu54del;Thr56_Asn61del;Glu63Phe;Thr65_Gln66del;Ile68_Val73delinsAsn;Thr76_Ile79delinsSerArgGlnGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 682,
          "referenceAllele": "AG",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.-1673_-1672del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:n.-1673_-1672del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "referenceAllele": "AG",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.146_147del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Arg49LysfsTer14",
        "hgvsWellDefined": "NP_919436.1:p.[Arg49del;Lys51_Leu54del;Thr56_Asn61del;Glu63Phe;Thr65_Gln66del;Ile68_Val73delinsAsn;Thr76_Ile79delinsSerArgGlnGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.146_147del"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.146_147del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Arg49LysfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Arg49LysfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}