{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368140096",
  "communityStandardTitle": [
    "NM_194454.3(KRIT1):c.1889G>A (p.Trp630Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4828637[alleleid]",
        "alleleId": 4828637,
        "preferredName": "NM_194454.3(KRIT1):c.1889G>A (p.Trp630Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4713229",
        "RCV": [
          "RCV006500889"
        ],
        "variationId": 4713229
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.91842645C>T?assembly=hg19",
        "id": "chr7:g.91842645C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92213331C>T?assembly=hg38",
        "id": "chr7:g.92213331C>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92213331,
          "referenceAllele": "C",
          "start": 92213330
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92213331C>T",
        "CM000669.2:g.92213331C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 91842645,
          "referenceAllele": "C",
          "start": 91842644
        }
      ],
      "hgvs": [
        "NC_000007.13:g.91842645C>T",
        "CM000669.1:g.91842645C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 91680581,
          "referenceAllele": "C",
          "start": 91680580
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91680581C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37770,
          "referenceAllele": "G",
          "start": 37769
        }
      ],
      "hgvs": [
        "NG_012964.1:g.37770G>A",
        "LRG_650:g.37770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5050,
          "referenceAllele": "G",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000425073.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404790.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000404790.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2748,
          "endIntronDirection": "+",
          "endIntronOffset": 8571,
          "referenceAllele": "G",
          "start": 2748,
          "startIntronDirection": "+",
          "startIntronOffset": 8570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000433016.6:c.*127+8571G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410104.2:n.*127+8571G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2390,
          "referenceAllele": "G",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000444960.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388076.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000388076.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "G",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000445516.2:c.*235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404084.2:n.*235G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "endIntronDirection": "+",
          "endIntronOffset": 8571,
          "referenceAllele": "G",
          "start": 2102,
          "startIntronDirection": "+",
          "startIntronOffset": 8570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000454017.6:c.1563+8571G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405835.2:n.1563+8571G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.7:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000391675.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "hgvs": [
        "ENST00000458493.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396352.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000396352.2:p.Trp630_Phe896delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.6:n.2335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2391,
          "referenceAllele": "G",
          "start": 2390
        }
      ],
      "hgvs": [
        "ENST00000650585.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000498010.2:p.Trp630_His799delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000684808.1:c.*1396G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508621.1:n.*1396G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000685431.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509995.1:p.Trp582Ter",
        "hgvsWellDefined": "ENSP00000509995.1:p.Trp582_Phe629delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2248,
          "referenceAllele": "G",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686043.1:c.*1152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510108.1:n.*1152G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2197,
          "referenceAllele": "G",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686094.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510015.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000510015.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686149.1:n.3368G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2269,
          "referenceAllele": "G",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686233.1:n.2269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686527.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509139.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509139.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686619.1:c.*1398G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509512.1:n.*1398G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "G",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686785.1:c.*1078G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508596.1:n.*1078G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "referenceAllele": "G",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687135.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509617.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509617.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2379,
          "referenceAllele": "G",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687627.1:n.2379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "referenceAllele": "G",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687876.1:c.*1396G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509086.1:n.*1396G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688180.1:n.941G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688196.1:n.2249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688314.1:c.*1152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510229.1:n.*1152G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "G",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688404.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509939.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509939.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688580.1:n.2760G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688665.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509209.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509209.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3764,
          "referenceAllele": "G",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688766.1:n.3764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688781.1:c.*1699G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510196.1:n.*1699G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2711,
          "referenceAllele": "G",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689082.1:n.2711G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "G",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689411.1:n.3824G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689539.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510360.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000510360.1:p.Trp630_Phe677delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2282,
          "referenceAllele": "G",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689556.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508543.1:p.Trp582Ter",
        "hgvsWellDefined": "ENSP00000508543.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3196,
          "referenceAllele": "G",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689778.1:n.3196G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2354,
          "referenceAllele": "G",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690292.1:c.*1524G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510303.1:n.*1524G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2191,
          "referenceAllele": "G",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690529.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510733.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000510733.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "G",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690720.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509832.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509832.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2207,
          "referenceAllele": "G",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690751.1:c.*1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509101.1:n.*1252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2845,
          "referenceAllele": "G",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690904.1:n.2845G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690908.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510110.1:p.Trp582Ter",
        "hgvsWellDefined": "ENSP00000510110.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2353,
          "referenceAllele": "G",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691239.1:c.*1063G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508475.1:n.*1063G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2322,
          "referenceAllele": "G",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691827.1:c.*1699G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508551.1:n.*1699G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2649,
          "referenceAllele": "G",
          "start": 2648
        }
      ],
      "hgvs": [
        "ENST00000691972.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510591.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000510591.1:p.Trp630_His799delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692000.1:n.3032G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2402,
          "referenceAllele": "G",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692157.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509514.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000509514.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "G",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692205.1:n.2266G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2407,
          "referenceAllele": "G",
          "start": 2406
        }
      ],
      "hgvs": [
        "ENST00000692281.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510568.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000510568.1:p.Trp630_Lys1120delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLysSerProProTyrIlePheSerProIleProPheLeuGlyHisAlaIleAlaPheGlyLysSerProIleGluPheLeuGluAsnAlaTyrGluLysTyrGlyProValPheSerPheThrMetValGlyLysThrPheThrTyrLeuLeuGlySerAspAlaAlaAlaLeuLeuPheAsnSerLysAsnGluAspLeuAsnAlaGluAspValTyrSerArgLeuThrThrProValPheGlyLysGlyValAlaTyrAspValProAsnProValPheLeuGluGlnLysLysMetLeuLysSerGlyLeuAsnIleAlaHisPheLysGlnHisValSerIleIleGluLysGluThrLysGluTyrPheGluSerTrpGlyGluSerGlyGluLysAsnValPheGluAlaLeuSerGluLeuIleIleLeuThrAlaSerHisCysLeuHisGlyLysGluIleArgSerGlnLeuAsnGluLysValAlaGlnLeuTyrAlaAspLeuAspGlyGlyPheSerHisAlaAlaTrpLeuLeuProGlyTrpLeuProLeuProSerPheArgArgArgAspArgAlaHisArgGluIleLysAspIlePheTyrLysAlaIleGlnLysArgArgGlnSerGlnGluLysIleAspAspIleLeuGlnThrLeuLeuAspAlaThrTyrLysAspGlyArgProLeuThrAspAspGluValAlaGlyMetLeuIleGlyLeuLeuLeuAlaGlyGlnHisThrSerSerThrThrSerAlaTrpMetGlyPhePheLeuAlaArgAspLysThrLeuGlnLysLysCysTyrLeuGluGlnLysThrValCysGlyGluAsnLeuProProLeuThrTyrAspGlnLeuLysAspLeuAsnLeuLeuAspArgCysIleLysGluThrLeuArgLeuArgProProIleMetIleMetMetArgMetAlaArgThrProGlnThrValAlaGlyTyrThrIleProProGlyHisGlnValCysValSerProThrValAsnGlnArgLeuLysAspSerTrpValGluArgLeuAspPheAsnProAspArgTyrLeuGlnAspAsnProAlaSerGlyGluLysPheAlaTyrValProPheGlyAlaGlyArgHisArgCysIleGlyGluAsnPheAlaTyrValGlnIleLysThrIleTrpSerThrMetLeuArgLeuTyrGluPheAspLeuIleAspGlyTyrPheProThrValAsnTyrThrThrMetIleHisThrProGluAsnProValIleArgTyrLysArgArgSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "G",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692361.1:n.3034G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2536,
          "referenceAllele": "G",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692690.1:c.*1396G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509642.1:n.*1396G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2388,
          "referenceAllele": "G",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692807.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508564.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000508564.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4145,
          "referenceAllele": "G",
          "start": 4144
        }
      ],
      "hgvs": [
        "ENST00000693096.1:n.4145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000693563.1:c.*1152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510120.1:n.*1152G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.7:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000378013.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.1889G>A"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.1889G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Trp630Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Trp630Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2673,
          "referenceAllele": "G",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000391675.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2407,
          "referenceAllele": "G",
          "start": 2406
        }
      ],
      "hgvs": [
        "ENST00000650585.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000498010.1:p.Trp630_Lys708del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000340022.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344668.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000344668.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2142,
          "referenceAllele": "G",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394503.6:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378011.2:p.Trp582Ter",
        "hgvsWellDefined": "ENSP00000378011.2:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000378013.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2673,
          "referenceAllele": "G",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394507.5:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378015.1:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000378015.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2678,
          "referenceAllele": "G",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000412043.6:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410909.2:p.Trp630Ter",
        "hgvsWellDefined": "ENSP00000410909.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.5:n.1531G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2412,
          "referenceAllele": "G",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000486261.5:n.2412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000611677.4:c.*189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478777.1:n.*189G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317122",
      "coordinates": [
        {
          "allele": "A",
          "end": 2142,
          "referenceAllele": "G",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Trp582Ter",
        "hgvsWellDefined": "NP_001013424.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579552",
      "coordinates": [
        {
          "allele": "A",
          "end": 2781,
          "referenceAllele": "G",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Trp630Ter",
        "hgvsWellDefined": "NP_004903.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425747",
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_919436.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830426028",
      "coordinates": [
        {
          "allele": "A",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194455.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919437.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_919437.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509819",
      "coordinates": [
        {
          "allele": "A",
          "end": 2673,
          "referenceAllele": "G",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194456.1:c.1889G>A",
        "LRG_650t1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919438.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_919438.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "referenceAllele": "G",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250660.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250717.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250717.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "G",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250662.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250719.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250719.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2286,
          "referenceAllele": "G",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250664.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250721.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250721.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250665.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250722.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250722.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250723.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "G",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250667.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250724.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250724.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250668.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250725.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250725.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2232,
          "referenceAllele": "G",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250669.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250726.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250726.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2759,
          "referenceAllele": "G",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716160.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716223.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_006716223.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2532,
          "referenceAllele": "G",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716161.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716224.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_006716224.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_006716225.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716163.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716226.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_006716226.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514953.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "G",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516652.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514954.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514954.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516653.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514955.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514955.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2533,
          "referenceAllele": "G",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514956.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2191,
          "referenceAllele": "G",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514957.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2149,
          "referenceAllele": "G",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516656.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514958.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514958.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2076,
          "referenceAllele": "G",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516657.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514959.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514959.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514960.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514961.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514962.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516661.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514963.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514963.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317122",
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.2:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Trp582Ter",
        "hgvsWellDefined": "NP_001013424.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559437",
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "G",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350669.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337598.1:p.Trp582Ter",
        "hgvsWellDefined": "NP_001337598.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559705",
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "G",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350670.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337599.1:p.Trp582Ter",
        "hgvsWellDefined": "NP_001337599.1:p.Trp582_Ser688delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559880",
      "coordinates": [
        {
          "allele": "A",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350671.1:c.1175G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337600.1:p.Trp392Ter",
        "hgvsWellDefined": "NP_001337600.1:p.Trp392_Ser498delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560168",
      "coordinates": [
        {
          "allele": "A",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350672.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337601.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337601.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560456",
      "coordinates": [
        {
          "allele": "A",
          "end": 2356,
          "referenceAllele": "G",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350673.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337602.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337602.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560744",
      "coordinates": [
        {
          "allele": "A",
          "end": 2585,
          "referenceAllele": "G",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350674.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337603.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337603.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561032",
      "coordinates": [
        {
          "allele": "A",
          "end": 2504,
          "referenceAllele": "G",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350675.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337604.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337604.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561320",
      "coordinates": [
        {
          "allele": "A",
          "end": 2467,
          "referenceAllele": "G",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350676.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337605.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337605.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561608",
      "coordinates": [
        {
          "allele": "A",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350677.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337606.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337606.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561896",
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "referenceAllele": "G",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350678.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337607.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337607.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562184",
      "coordinates": [
        {
          "allele": "A",
          "end": 2418,
          "referenceAllele": "G",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350679.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337608.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337608.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562472",
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350680.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337609.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337609.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562760",
      "coordinates": [
        {
          "allele": "A",
          "end": 2833,
          "referenceAllele": "G",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350681.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337610.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337610.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563048",
      "coordinates": [
        {
          "allele": "A",
          "end": 2795,
          "referenceAllele": "G",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350682.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337611.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337611.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563336",
      "coordinates": [
        {
          "allele": "A",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350683.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337612.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337612.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563624",
      "coordinates": [
        {
          "allele": "A",
          "end": 2583,
          "referenceAllele": "G",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350684.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337613.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337613.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563912",
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350685.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337614.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337614.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564200",
      "coordinates": [
        {
          "allele": "A",
          "end": 2797,
          "referenceAllele": "G",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350686.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337615.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337615.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564488",
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "G",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337616.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564776",
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350688.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337617.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337617.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565064",
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "referenceAllele": "G",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350689.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337618.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565352",
      "coordinates": [
        {
          "allele": "A",
          "end": 2472,
          "referenceAllele": "G",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350690.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337619.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565640",
      "coordinates": [
        {
          "allele": "A",
          "end": 2527,
          "referenceAllele": "G",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350691.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337620.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565928",
      "coordinates": [
        {
          "allele": "A",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350692.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337621.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337621.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566216",
      "coordinates": [
        {
          "allele": "A",
          "end": 2600,
          "referenceAllele": "G",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350693.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337622.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337622.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566504",
      "coordinates": [
        {
          "allele": "A",
          "end": 2414,
          "referenceAllele": "G",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350694.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337623.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337623.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566792",
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350695.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337624.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337624.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567080",
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350696.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337625.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337625.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567368",
      "coordinates": [
        {
          "allele": "A",
          "end": 2731,
          "referenceAllele": "G",
          "start": 2730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350697.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337626.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_001337626.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579552",
      "coordinates": [
        {
          "allele": "A",
          "end": 2983,
          "referenceAllele": "G",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.4:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Trp630Ter",
        "hgvsWellDefined": "NP_004903.2:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425747",
      "coordinates": [
        {
          "allele": "A",
          "end": 2620,
          "referenceAllele": "G",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.2:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_919436.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.4:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_005250723.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.4:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_006716225.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514953.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2533,
          "referenceAllele": "G",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514956.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2187,
          "referenceAllele": "G",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514957.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2088,
          "referenceAllele": "G",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514960.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514961.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_011514962.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2628,
          "referenceAllele": "G",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_017012758.2:c.1175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868247.1:p.Trp392Ter",
        "hgvsWellDefined": "XP_016868247.1:p.Trp392_Ser498delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302750.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_024302750.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Trp630Ter",
        "hgvsWellDefined": "XP_024302751.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.1052G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Trp351Ter",
        "hgvsWellDefined": "XP_024302752.1:p.Trp351_Ser457delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425747",
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Trp630Ter",
        "hgvsWellDefined": "NP_919436.1:p.Trp630_Ser736delinsGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.1889G>A"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.1889G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Trp630Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Trp630Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}