{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13568491",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.2390+123C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1166872[alleleid]",
        "alleleId": 1166872,
        "preferredName": "NM_000352.6(ABCC8):c.2390+123C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1177449",
        "RCV": [
          "RCV001533226",
          "RCV001533223",
          "RCV001533225",
          "RCV001533224",
          "RCV001615251",
          "RCV002285178",
          "RCV002285179"
        ],
        "variationId": 1177449
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17435936G>A?assembly=hg19",
        "id": "chr11:g.17435936G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17414389G>A?assembly=hg38",
        "id": "chr11:g.17414389G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4148631",
        "rs": 4148631
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17435936-G-A?dataset=gnomad_r2_1",
        "id": "11-17435936-G-A",
        "variant": "11:17435936 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17414389-G-A?dataset=gnomad_r3",
        "id": "11-17414389-G-A",
        "variant": "11:17414389 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17414389-G-A?dataset=gnomad_r4",
        "id": "11-17414389-G-A",
        "variant": "11:17414389 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17414389,
          "referenceAllele": "G",
          "start": 17414388
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17414389G>A",
        "CM000673.2:g.17414389G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17435936,
          "referenceAllele": "G",
          "start": 17435935
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17435936G>A",
        "CM000673.1:g.17435936G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17392512,
          "referenceAllele": "G",
          "start": 17392511
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17392512G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67514,
          "referenceAllele": "C",
          "start": 67513
        }
      ],
      "hgvs": [
        "NG_008867.1:g.67514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2059,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2059,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.2059+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.649+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2406,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.2406+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3695,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 3695,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.3695+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2310,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*528+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*528+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2564,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*821+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*821+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2580,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2580,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.2580+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2403,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.2403+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2558,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2558,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.2558+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2483,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2615,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.2615+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2561,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.2561+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2537,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2537,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*559+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*559+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2415,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2415,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2362,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2362,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.2362+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2501,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2501,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*562+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*562+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1891,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.1891+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2532,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.2532+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2565,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.2565+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*602+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*602+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2272,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.2231+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:n.2231+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2324,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*2095+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*2095+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2529,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*786+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*786+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.2390+123C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.2390+123C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:n.2390+123C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:n.2390+123C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2422,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2422,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.474+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2344,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.2344+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2225,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2225,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.2225+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2450,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2450,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*366+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*366+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.330+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 746,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644447.1:c.746+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496282.1:n.746+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644472.1:c.*751+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495378.1:n.*751+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2342,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*599+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*599+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2313,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644542.1:c.*2095+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495532.1:n.*2095+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2518,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*562+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*562+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*695+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*695+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.2456+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:n.2456+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1642,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.1642+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1838,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*754+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*754+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.2665+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2458,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2313,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*531+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*531+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2235,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*754+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*754+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2401,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2401,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*663+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*663+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1616,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.1616+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2455,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2455,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2521,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*786+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*786+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2396,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.2396+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.2396+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2209,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2209,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.2141+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:n.2141+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4265,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 4265,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*2120+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*2120+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2340,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*531+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*531+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2403,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.2360+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.2360+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.5:n.59+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000531911.1:n.504+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2453,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.890+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:n.890+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520334.1:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518636.1:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930891.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.2456+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2453,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.2453+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2525,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.2456+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:n.2456+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2531,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.2459+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:n.2459+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2527,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.2456+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:n.2456+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2531,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.2459+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:n.2459+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2323,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.956+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:n.956+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 1435,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.347+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:n.347+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 3474,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.758+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:n.758+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2531,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.2531+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.2462+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2531,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.2531+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.2390+123C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.2390+123C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:n.2390+123C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:n.2390+123C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2525,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.2456+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:n.2456+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.2390+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:n.2390+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.2387+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:n.2387+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.2459+123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 2462,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.2393+123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.2393+123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}