{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368166698",
  "communityStandardTitle": [
    "NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=581340[alleleid]",
        "alleleId": 581340,
        "preferredName": "NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/590734",
        "RCV": [
          "RCV000721875",
          "RCV001239359"
        ],
        "variationId": 590734
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.91830671G>A?assembly=hg19",
        "id": "chr7:g.91830671G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92201357G>A?assembly=hg38",
        "id": "chr7:g.92201357G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1563211627",
        "rs": 1563211627
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92201357-G-A?dataset=gnomad_r4",
        "id": "7-92201357-G-A",
        "variant": "7:92201357 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 92201357,
          "referenceAllele": "G",
          "start": 92201356
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92201357G>A",
        "CM000669.2:g.92201357G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 91830671,
          "referenceAllele": "G",
          "start": 91830670
        }
      ],
      "hgvs": [
        "NC_000007.13:g.91830671G>A",
        "CM000669.1:g.91830671G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 91668607,
          "referenceAllele": "G",
          "start": 91668606
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91668607G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49744,
          "referenceAllele": "C",
          "start": 49743
        }
      ],
      "hgvs": [
        "NG_012964.1:g.49744C>T",
        "LRG_650:g.49744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5253,
          "referenceAllele": "C",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000425073.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404790.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000404790.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000433016.6:c.*194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410104.2:n.*194C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2593,
          "referenceAllele": "C",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000444960.6:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388076.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000388076.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "C",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000445516.2:c.*438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404084.2:n.*438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000454017.6:c.1630C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405835.2:p.Gln544Ter",
        "hgvsWellDefined": "ENSP00000405835.2:p.Gln544_Ser582delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.7:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000391675.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 2335,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000458493.6:c.2025+11838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396352.2:n.2025+11838C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2538,
          "referenceAllele": "C",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.6:n.2538C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "C",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000487168.2:n.2265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 2527,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000650585.2:c.2025+11838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.2:n.2025+11838C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000684808.1:c.*1599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508621.1:n.*1599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000685431.1:c.*127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509995.1:n.*127C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686043.1:c.*1355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510108.1:n.*1355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2400,
          "referenceAllele": "C",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686094.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510015.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000510015.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3571,
          "referenceAllele": "C",
          "start": 3570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686149.1:n.3571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686233.1:n.2472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686527.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509139.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509139.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686619.1:c.*1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509512.1:n.*1601C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686785.1:c.*1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508596.1:n.*1281C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2697,
          "referenceAllele": "C",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687135.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509617.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509617.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "C",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687876.1:c.*1599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509086.1:n.*1599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688180.1:n.1144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2644,
          "referenceAllele": "C",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688314.1:c.*1355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510229.1:n.*1355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "C",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688404.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509939.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509939.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "referenceAllele": "C",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688580.1:n.2963C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688665.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509209.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509209.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688766.1:n.3967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2745,
          "referenceAllele": "C",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688781.1:c.*1902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510196.1:n.*1902C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2914,
          "referenceAllele": "C",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689082.1:n.2914C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4027,
          "referenceAllele": "C",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689411.1:n.4027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689539.1:c.*127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510360.1:n.*127C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "C",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689556.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508543.1:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000508543.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3399,
          "referenceAllele": "C",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689778.1:n.3399C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690292.1:c.*1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510303.1:n.*1727C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2394,
          "referenceAllele": "C",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690529.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510733.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000510733.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690720.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509832.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509832.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690751.1:c.*1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509101.1:n.*1455C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690904.1:n.3048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690908.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510110.1:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000510110.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2556,
          "referenceAllele": "C",
          "start": 2555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691239.1:c.*1266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508475.1:n.*1266C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "referenceAllele": "C",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691827.1:c.*1902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508551.1:n.*1902C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000691972.1:c.2025+11838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510591.1:n.2025+11838C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2605,
          "referenceAllele": "C",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692157.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509514.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000509514.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000692281.1:c.2025+11838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510568.1:n.2025+11838C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3237,
          "referenceAllele": "C",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692361.1:n.3237C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "C",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692690.1:c.*1599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509642.1:n.*1599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2591,
          "referenceAllele": "C",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692807.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508564.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000508564.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4281,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 4281,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000693096.1:n.4281+11838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "C",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000693563.1:c.*1355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510120.1:n.*1355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2637,
          "referenceAllele": "C",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.7:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000378013.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.2092C>T"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.2092C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Gln698Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Gln698Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.6:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000391675.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 11838,
          "referenceAllele": "C",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 11837
        }
      ],
      "hgvs": [
        "ENST00000650585.1:c.2025+11838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.1:n.2025+11838C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000340022.6:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344668.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000344668.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394503.6:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378011.2:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000378011.2:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "C",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.6:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000378013.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394507.5:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378015.1:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000378015.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2881,
          "referenceAllele": "C",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000412043.6:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410909.2:p.Gln698Ter",
        "hgvsWellDefined": "ENSP00000410909.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.5:n.1734C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "referenceAllele": "C",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000486261.5:n.2615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000487168.1:n.199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2574,
          "referenceAllele": "C",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000611677.4:c.*392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478777.1:n.*392C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317171",
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001013424.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579598",
      "coordinates": [
        {
          "allele": "T",
          "end": 2984,
          "referenceAllele": "C",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Gln698Ter",
        "hgvsWellDefined": "NP_004903.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425703",
      "coordinates": [
        {
          "allele": "T",
          "end": 2637,
          "referenceAllele": "C",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_919436.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830426097",
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194455.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919437.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_919437.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865700",
      "coordinates": [
        {
          "allele": "T",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194456.1:c.2092C>T",
        "LRG_650t1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919438.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_919438.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "referenceAllele": "C",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250660.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250717.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250717.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250662.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250719.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250719.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250664.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250721.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250721.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250665.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250722.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250722.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "referenceAllele": "C",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250723.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "C",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250667.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250724.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250724.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2457,
          "referenceAllele": "C",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250668.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250725.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250725.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2435,
          "referenceAllele": "C",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250669.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250726.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250726.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2962,
          "referenceAllele": "C",
          "start": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716160.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716223.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_006716223.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716161.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716224.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_006716224.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2552,
          "referenceAllele": "C",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_006716225.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716163.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716226.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_006716226.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2718,
          "referenceAllele": "C",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514953.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516652.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514954.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514954.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516653.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514955.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514955.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514956.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2394,
          "referenceAllele": "C",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514957.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "referenceAllele": "C",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516656.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514958.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514958.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "C",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516657.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514959.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514959.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514960.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514961.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514962.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516661.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514963.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514963.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317171",
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "C",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.2:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001013424.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559471",
      "coordinates": [
        {
          "allele": "T",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350669.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337598.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001337598.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559739",
      "coordinates": [
        {
          "allele": "T",
          "end": 2679,
          "referenceAllele": "C",
          "start": 2678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350670.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337599.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001337599.1:p.Gln650_Ser688delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559914",
      "coordinates": [
        {
          "allele": "T",
          "end": 2869,
          "referenceAllele": "C",
          "start": 2868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350671.1:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337600.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001337600.1:p.Gln460_Ser498delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560202",
      "coordinates": [
        {
          "allele": "T",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350672.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337601.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337601.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560490",
      "coordinates": [
        {
          "allele": "T",
          "end": 2559,
          "referenceAllele": "C",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350673.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337602.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337602.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560778",
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "referenceAllele": "C",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350674.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337603.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337603.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561066",
      "coordinates": [
        {
          "allele": "T",
          "end": 2707,
          "referenceAllele": "C",
          "start": 2706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350675.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337604.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337604.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561354",
      "coordinates": [
        {
          "allele": "T",
          "end": 2670,
          "referenceAllele": "C",
          "start": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350676.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337605.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337605.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561642",
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350677.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337606.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337606.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561930",
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350678.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337607.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337607.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562218",
      "coordinates": [
        {
          "allele": "T",
          "end": 2621,
          "referenceAllele": "C",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350679.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337608.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337608.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562506",
      "coordinates": [
        {
          "allele": "T",
          "end": 2501,
          "referenceAllele": "C",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350680.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337609.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337609.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562794",
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "C",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350681.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337610.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337610.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563082",
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "referenceAllele": "C",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350682.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337611.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337611.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563370",
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350683.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337612.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337612.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563658",
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "C",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350684.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337613.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337613.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563946",
      "coordinates": [
        {
          "allele": "T",
          "end": 2791,
          "referenceAllele": "C",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350685.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337614.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337614.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564234",
      "coordinates": [
        {
          "allele": "T",
          "end": 3000,
          "referenceAllele": "C",
          "start": 2999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350686.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337615.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337615.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564522",
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337616.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564810",
      "coordinates": [
        {
          "allele": "T",
          "end": 2638,
          "referenceAllele": "C",
          "start": 2637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350688.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337617.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337617.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565098",
      "coordinates": [
        {
          "allele": "T",
          "end": 2769,
          "referenceAllele": "C",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350689.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337618.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565386",
      "coordinates": [
        {
          "allele": "T",
          "end": 2675,
          "referenceAllele": "C",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350690.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337619.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565674",
      "coordinates": [
        {
          "allele": "T",
          "end": 2730,
          "referenceAllele": "C",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350691.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337620.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565962",
      "coordinates": [
        {
          "allele": "T",
          "end": 2916,
          "referenceAllele": "C",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350692.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337621.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337621.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566250",
      "coordinates": [
        {
          "allele": "T",
          "end": 2803,
          "referenceAllele": "C",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350693.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337622.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337622.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566538",
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350694.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337623.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337623.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566826",
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350695.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337624.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337624.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567114",
      "coordinates": [
        {
          "allele": "T",
          "end": 2553,
          "referenceAllele": "C",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350696.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337625.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337625.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567402",
      "coordinates": [
        {
          "allele": "T",
          "end": 2934,
          "referenceAllele": "C",
          "start": 2933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350697.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337626.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_001337626.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579598",
      "coordinates": [
        {
          "allele": "T",
          "end": 3186,
          "referenceAllele": "C",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.4:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Gln698Ter",
        "hgvsWellDefined": "NP_004903.2:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425703",
      "coordinates": [
        {
          "allele": "T",
          "end": 2823,
          "referenceAllele": "C",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_919436.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "referenceAllele": "C",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.4:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_005250723.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2552,
          "referenceAllele": "C",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.4:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_006716225.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2718,
          "referenceAllele": "C",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514953.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514956.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514957.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514960.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514961.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_011514962.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2831,
          "referenceAllele": "C",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_017012758.2:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868247.1:p.Gln460Ter",
        "hgvsWellDefined": "XP_016868247.1:p.Gln460_Ser498delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2677,
          "referenceAllele": "C",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302750.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_024302750.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Gln698Ter",
        "hgvsWellDefined": "XP_024302751.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "C",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.1255C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Gln419Ter",
        "hgvsWellDefined": "XP_024302752.1:p.Gln419_Ser457delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425703",
      "coordinates": [
        {
          "allele": "T",
          "end": 2637,
          "referenceAllele": "C",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gln698Ter",
        "hgvsWellDefined": "NP_919436.1:p.Gln698_Ser736delinsIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.2092C>T"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.2092C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Gln698Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Gln698Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}