{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4338961",
  "communityStandardTitle": [
    "NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=722719[alleleid]",
        "alleleId": 722719,
        "preferredName": "NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/719853",
        "RCV": [
          "RCV000893072",
          "RCV001163712",
          "RCV001163713",
          "RCV004551669"
        ],
        "variationId": 719853
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-91830695-A-G",
        "id": "7-91830695-A-G",
        "variant": "7:91830695 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.91830695A>G?assembly=hg19",
        "id": "chr7:g.91830695A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92201381A>G?assembly=hg38",
        "id": "chr7:g.92201381A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370766145",
        "rs": 370766145
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-91830695-A-G?dataset=gnomad_r2_1",
        "id": "7-91830695-A-G",
        "variant": "7:91830695 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92201381-A-G?dataset=gnomad_r3",
        "id": "7-92201381-A-G",
        "variant": "7:92201381 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92201381-A-G?dataset=gnomad_r4",
        "id": "7-92201381-A-G",
        "variant": "7:92201381 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 92201381,
          "referenceAllele": "A",
          "start": 92201380
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92201381A>G",
        "CM000669.2:g.92201381A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 91830695,
          "referenceAllele": "A",
          "start": 91830694
        }
      ],
      "hgvs": [
        "NC_000007.13:g.91830695A>G",
        "CM000669.1:g.91830695A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 91668631,
          "referenceAllele": "A",
          "start": 91668630
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91668631A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49720,
          "referenceAllele": "T",
          "start": 49719
        }
      ],
      "hgvs": [
        "NG_012964.1:g.49720T>C",
        "LRG_650:g.49720T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5229,
          "referenceAllele": "T",
          "start": 5228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000425073.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404790.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2791,
          "referenceAllele": "T",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000433016.6:c.*170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410104.2:n.*170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2569,
          "referenceAllele": "T",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000444960.6:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388076.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2288,
          "referenceAllele": "T",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000445516.2:c.*414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404084.2:n.*414T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000454017.6:c.1606T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405835.2:p.Leu536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2749,
          "referenceAllele": "T",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.7:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2335,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 2335,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000458493.6:c.2025+11814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396352.2:n.2025+11814T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2514,
          "referenceAllele": "T",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.6:n.2514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2241,
          "referenceAllele": "T",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000487168.2:n.2241T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 2527,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000650585.2:c.2025+11814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.2:n.2025+11814T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2418,
          "referenceAllele": "T",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000684808.1:c.*1575T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508621.1:n.*1575T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2483,
          "referenceAllele": "T",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000685431.1:c.*103T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509995.1:n.*103T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2427,
          "referenceAllele": "T",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686043.1:c.*1331T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510108.1:n.*1331T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830373"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2376,
          "referenceAllele": "T",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686094.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510015.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3547,
          "referenceAllele": "T",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686149.1:n.3547T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686233.1:n.2448T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2417,
          "referenceAllele": "T",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686527.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509139.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3298,
          "referenceAllele": "T",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686619.1:c.*1577T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509512.1:n.*1577T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2158,
          "referenceAllele": "T",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686785.1:c.*1257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508596.1:n.*1257T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2673,
          "referenceAllele": "T",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687135.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509617.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2952,
          "referenceAllele": "T",
          "start": 2951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687876.1:c.*1575T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509086.1:n.*1575T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "T",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688180.1:n.1120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2620,
          "referenceAllele": "T",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688314.1:c.*1331T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510229.1:n.*1331T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2560,
          "referenceAllele": "T",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688404.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509939.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2939,
          "referenceAllele": "T",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688580.1:n.2939T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2362,
          "referenceAllele": "T",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688665.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509209.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3943,
          "referenceAllele": "T",
          "start": 3942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688766.1:n.3943T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2721,
          "referenceAllele": "T",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688781.1:c.*1878T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510196.1:n.*1878T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689082.1:n.2890T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4003,
          "referenceAllele": "T",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689411.1:n.4003T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689539.1:c.*103T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510360.1:n.*103T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2461,
          "referenceAllele": "T",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689556.1:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508543.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3375,
          "referenceAllele": "T",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689778.1:n.3375T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "referenceAllele": "T",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690292.1:c.*1703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510303.1:n.*1703T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2370,
          "referenceAllele": "T",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690529.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510733.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2559,
          "referenceAllele": "T",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690720.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509832.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2386,
          "referenceAllele": "T",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690751.1:c.*1431T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509101.1:n.*1431T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3024,
          "referenceAllele": "T",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690904.1:n.3024T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "referenceAllele": "T",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690908.1:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510110.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "referenceAllele": "T",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691239.1:c.*1242T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508475.1:n.*1242T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2501,
          "referenceAllele": "T",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691827.1:c.*1878T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508551.1:n.*1878T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000691972.1:c.2025+11814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510591.1:n.2025+11814T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "T",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692157.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509514.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000692281.1:c.2025+11814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510568.1:n.2025+11814T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3213,
          "referenceAllele": "T",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692361.1:n.3213T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2715,
          "referenceAllele": "T",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692690.1:c.*1575T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509642.1:n.*1575T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2567,
          "referenceAllele": "T",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692807.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508564.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4281,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 4281,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000693096.1:n.4281+11814T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1966,
          "referenceAllele": "T",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000693563.1:c.*1331T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510120.1:n.*1331T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2613,
          "referenceAllele": "T",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.7:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.2068T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.2068T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Leu690="
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Leu690="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.6:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 11814,
          "referenceAllele": "T",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 11813
        }
      ],
      "hgvs": [
        "ENST00000650585.1:c.2025+11814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.1:n.2025+11814T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000340022.6:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344668.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2321,
          "referenceAllele": "T",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394503.6:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378011.2:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2622,
          "referenceAllele": "T",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.6:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394507.5:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378015.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2857,
          "referenceAllele": "T",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000412043.6:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410909.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1710,
          "referenceAllele": "T",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000475770.5:n.1710T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2591,
          "referenceAllele": "T",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000486261.5:n.2591T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000487168.1:n.175T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000611677.4:c.*368T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478777.1:n.*368T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317164",
      "coordinates": [
        {
          "allele": "C",
          "end": 2321,
          "referenceAllele": "T",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.1:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579593",
      "coordinates": [
        {
          "allele": "C",
          "end": 2960,
          "referenceAllele": "T",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425699",
      "coordinates": [
        {
          "allele": "C",
          "end": 2613,
          "referenceAllele": "T",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830426093",
      "coordinates": [
        {
          "allele": "C",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194455.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919437.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830426564",
      "coordinates": [
        {
          "allele": "C",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194456.1:c.2068T>C",
        "LRG_650t1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919438.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2580,
          "referenceAllele": "T",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250660.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250717.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2559,
          "referenceAllele": "T",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250662.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250719.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2465,
          "referenceAllele": "T",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250664.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250721.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2487,
          "referenceAllele": "T",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250665.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250722.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2663,
          "referenceAllele": "T",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "T",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250667.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250724.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250668.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250725.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2411,
          "referenceAllele": "T",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250669.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250726.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2938,
          "referenceAllele": "T",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716160.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716223.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2711,
          "referenceAllele": "T",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716161.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716224.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2528,
          "referenceAllele": "T",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2378,
          "referenceAllele": "T",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716163.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716226.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2694,
          "referenceAllele": "T",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2559,
          "referenceAllele": "T",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516652.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514954.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2447,
          "referenceAllele": "T",
          "start": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516653.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514955.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2712,
          "referenceAllele": "T",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2370,
          "referenceAllele": "T",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2328,
          "referenceAllele": "T",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516656.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514958.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "referenceAllele": "T",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516657.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514959.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2291,
          "referenceAllele": "T",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2289,
          "referenceAllele": "T",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2171,
          "referenceAllele": "T",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2093,
          "referenceAllele": "T",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516661.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514963.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317164",
      "coordinates": [
        {
          "allele": "C",
          "end": 2507,
          "referenceAllele": "T",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.2:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559468",
      "coordinates": [
        {
          "allele": "C",
          "end": 2475,
          "referenceAllele": "T",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350669.1:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337598.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559736",
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350670.1:c.1924T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337599.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559910",
      "coordinates": [
        {
          "allele": "C",
          "end": 2845,
          "referenceAllele": "T",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350671.1:c.1354T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337600.1:p.Leu452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560198",
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350672.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337601.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560486",
      "coordinates": [
        {
          "allele": "C",
          "end": 2535,
          "referenceAllele": "T",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350673.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337602.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560775",
      "coordinates": [
        {
          "allele": "C",
          "end": 2764,
          "referenceAllele": "T",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350674.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337603.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561062",
      "coordinates": [
        {
          "allele": "C",
          "end": 2683,
          "referenceAllele": "T",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350675.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337604.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561350",
      "coordinates": [
        {
          "allele": "C",
          "end": 2646,
          "referenceAllele": "T",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350676.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337605.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561639",
      "coordinates": [
        {
          "allele": "C",
          "end": 2434,
          "referenceAllele": "T",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350677.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337606.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561926",
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "referenceAllele": "T",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350678.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337607.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562215",
      "coordinates": [
        {
          "allele": "C",
          "end": 2597,
          "referenceAllele": "T",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350679.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337608.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562502",
      "coordinates": [
        {
          "allele": "C",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350680.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337609.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562791",
      "coordinates": [
        {
          "allele": "C",
          "end": 3012,
          "referenceAllele": "T",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350681.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337610.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563078",
      "coordinates": [
        {
          "allele": "C",
          "end": 2974,
          "referenceAllele": "T",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350682.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337611.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563367",
      "coordinates": [
        {
          "allele": "C",
          "end": 2631,
          "referenceAllele": "T",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350683.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337612.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563654",
      "coordinates": [
        {
          "allele": "C",
          "end": 2762,
          "referenceAllele": "T",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350684.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337613.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563942",
      "coordinates": [
        {
          "allele": "C",
          "end": 2767,
          "referenceAllele": "T",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350685.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337614.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564230",
      "coordinates": [
        {
          "allele": "C",
          "end": 2976,
          "referenceAllele": "T",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350686.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337615.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564519",
      "coordinates": [
        {
          "allele": "C",
          "end": 2518,
          "referenceAllele": "T",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564807",
      "coordinates": [
        {
          "allele": "C",
          "end": 2614,
          "referenceAllele": "T",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350688.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337617.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565095",
      "coordinates": [
        {
          "allele": "C",
          "end": 2745,
          "referenceAllele": "T",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350689.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565383",
      "coordinates": [
        {
          "allele": "C",
          "end": 2651,
          "referenceAllele": "T",
          "start": 2650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350690.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565671",
      "coordinates": [
        {
          "allele": "C",
          "end": 2706,
          "referenceAllele": "T",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350691.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565958",
      "coordinates": [
        {
          "allele": "C",
          "end": 2892,
          "referenceAllele": "T",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350692.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337621.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566246",
      "coordinates": [
        {
          "allele": "C",
          "end": 2779,
          "referenceAllele": "T",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350693.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337622.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566535",
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350694.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337623.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566823",
      "coordinates": [
        {
          "allele": "C",
          "end": 2744,
          "referenceAllele": "T",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350695.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337624.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567110",
      "coordinates": [
        {
          "allele": "C",
          "end": 2529,
          "referenceAllele": "T",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350696.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337625.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567399",
      "coordinates": [
        {
          "allele": "C",
          "end": 2910,
          "referenceAllele": "T",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350697.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337626.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579593",
      "coordinates": [
        {
          "allele": "C",
          "end": 3162,
          "referenceAllele": "T",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.4:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425699",
      "coordinates": [
        {
          "allele": "C",
          "end": 2799,
          "referenceAllele": "T",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.2:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2663,
          "referenceAllele": "T",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.4:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2528,
          "referenceAllele": "T",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.4:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2694,
          "referenceAllele": "T",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2712,
          "referenceAllele": "T",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2366,
          "referenceAllele": "T",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2267,
          "referenceAllele": "T",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2289,
          "referenceAllele": "T",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2171,
          "referenceAllele": "T",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2807,
          "referenceAllele": "T",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_017012758.2:c.1354T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868247.1:p.Leu452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2653,
          "referenceAllele": "T",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302750.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2402,
          "referenceAllele": "T",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3584,
          "referenceAllele": "T",
          "start": 3583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.1231T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Leu411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425699",
      "coordinates": [
        {
          "allele": "C",
          "end": 2613,
          "referenceAllele": "T",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.2068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Leu690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.2068T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.2068T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Leu690="
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Leu690="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}