{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1725824831",
  "communityStandardTitle": [
    "NM_194454.3(KRIT1):c.301G= (p.Gly101=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521140",
        "rs": 1057521140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92237721,
          "referenceAllele": "C",
          "start": 92237720
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92237721C=",
        "CM000669.2:g.92237721C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 91867035,
          "referenceAllele": "C",
          "start": 91867034
        }
      ],
      "hgvs": [
        "NC_000007.13:g.91867035C=",
        "CM000669.1:g.91867035C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 91704971,
          "referenceAllele": "C",
          "start": 91704970
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91704971C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13380,
          "referenceAllele": "G",
          "start": 13379
        }
      ],
      "hgvs": [
        "NG_012964.1:g.13380G=",
        "LRG_650:g.13380G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3462,
          "referenceAllele": "G",
          "start": 3461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000425073.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404790.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000430102.6:n.939G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000433016.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410104.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000444960.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388076.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000445516.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404084.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000454017.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405835.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.7:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "hgvs": [
        "ENST00000458493.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396352.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "hgvs": [
        "ENST00000650585.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000684808.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508621.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000685285.1:n.791G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000685431.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509995.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686043.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510108.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686094.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510015.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686149.1:n.1014G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686233.1:n.696G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686527.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509139.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686619.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509512.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000686785.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508596.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687135.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509617.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687627.1:n.791G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000687876.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509086.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688196.1:n.661G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688314.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510229.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688404.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509939.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688665.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509209.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688766.1:n.642G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000688781.1:c.*111G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510196.1:n.*111G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689082.1:n.1123G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689411.1:n.1470G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689539.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510360.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689556.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508543.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000689778.1:n.840G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690292.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510303.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690529.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510733.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690720.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509832.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 2074,
          "referenceAllele": "G",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690751.1:c.263-2075G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509101.1:n.263-2075G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690904.1:n.751G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000690908.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510110.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691239.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508475.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691622.1:n.791G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000691827.1:c.*111G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508551.1:n.*111G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "hgvs": [
        "ENST00000691972.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510591.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692000.1:n.678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692157.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509514.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692205.1:n.678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "hgvs": [
        "ENST00000692281.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510568.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692361.1:n.678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692428.1:n.1322G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "endIntronDirection": "-",
          "endIntronOffset": 2074,
          "referenceAllele": "G",
          "start": 1132,
          "startIntronDirection": "-",
          "startIntronOffset": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692690.1:c.263-2075G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509642.1:n.263-2075G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000692807.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508564.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "hgvs": [
        "ENST00000693096.1:n.452G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000693563.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510120.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.7:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.301G="
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.301G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Gly101="
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Gly101="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "hgvs": [
        "ENST00000650585.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498010.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000340022.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344668.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394503.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378011.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394505.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378013.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000394507.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378015.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000412043.6:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410909.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000433016.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410104.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000440209.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396042.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000454017.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405835.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000458177.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391675.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000486261.5:n.166G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "ENST00000611677.4:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478777.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073482707",
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194455.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_919437.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194456.1:c.301G=",
        "LRG_650t1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_919438.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250660.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250717.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250662.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250719.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250664.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250721.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250665.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250722.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250667.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250724.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250668.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250725.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250669.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250726.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716160.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716223.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716161.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716224.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "G",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716163.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716226.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516652.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514954.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516653.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514955.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516656.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514958.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516657.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514959.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516661.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514963.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001013406.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013424.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350669.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337598.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350670.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337599.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350671.1:c.-283G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337600.1:n.-283G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350672.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337601.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350673.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337602.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350674.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337603.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350675.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337604.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350676.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337605.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350677.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337606.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350678.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337607.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350679.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337608.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350680.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337609.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350681.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337610.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350682.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337611.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350683.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337612.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350684.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337613.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350685.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337614.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350686.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337615.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350688.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337617.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350689.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350690.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350691.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350692.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337621.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350693.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337622.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350694.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337623.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350695.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337624.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350696.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337625.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350697.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337626.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073482707",
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_004912.4:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004903.2:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_005250666.4:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "G",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.4:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516654.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514956.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516655.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514957.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516659.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514961.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516660.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_017012758.2:c.-283G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868247.1:n.-283G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302750.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.-1518G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:n.-1518G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.301G="
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.301G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Gly101="
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Gly101="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}