{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213448",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44275[alleleid]",
        "alleleId": 44275,
        "preferredName": "NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35610",
        "RCV": [
          "RCV000029256",
          "RCV002243664",
          "RCV002243663"
        ],
        "variationId": 35610
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17426074A>C?assembly=hg19",
        "id": "chr11:g.17426074A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17404527A>C?assembly=hg38",
        "id": "chr11:g.17404527A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922399",
        "rs": 193922399
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17404527,
          "referenceAllele": "A",
          "start": 17404526
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17404527A>C",
        "CM000673.2:g.17404527A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17426074,
          "referenceAllele": "A",
          "start": 17426073
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17426074A>C",
        "CM000673.1:g.17426074A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17382650,
          "referenceAllele": "A",
          "start": 17382649
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17382650A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77376,
          "referenceAllele": "T",
          "start": 77375
        }
      ],
      "hgvs": [
        "NG_008867.1:g.77376T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3111,
          "referenceAllele": "T",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.3111T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "referenceAllele": "T",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.2:c.121T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1881,
          "referenceAllele": "T",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.1881T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1274,
          "referenceAllele": "T",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532220.2:n.1274T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.2:n.1041T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3558,
          "referenceAllele": "T",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.3558T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Phe1180Cys",
        "hgvsWellDefined": "ENSP00000507829.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4847,
          "referenceAllele": "T",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.4847T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3462,
          "referenceAllele": "T",
          "start": 3461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*1680T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*1680T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.3608T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3716,
          "referenceAllele": "T",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*1973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*1973T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3831,
          "referenceAllele": "T",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.3831T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3688,
          "referenceAllele": "T",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.3688T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3555,
          "referenceAllele": "T",
          "start": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.3555T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.3608T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3465,
          "endIntronDirection": "+",
          "endIntronOffset": 967,
          "referenceAllele": "T",
          "start": 3465,
          "startIntronDirection": "+",
          "startIntronOffset": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.3396+967T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.3396+967T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3710,
          "referenceAllele": "T",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.3710T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3635,
          "referenceAllele": "T",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Phe1180Cys",
        "hgvsWellDefined": "ENSP00000507768.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3767,
          "referenceAllele": "T",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.3767T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3713,
          "referenceAllele": "T",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.3713T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3700,
          "referenceAllele": "T",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.*679T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.*679T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3689,
          "referenceAllele": "T",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*1711T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*1711T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3688,
          "referenceAllele": "T",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.3688T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3567,
          "referenceAllele": "T",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Phe1181Cys",
        "hgvsWellDefined": "ENSP00000507496.1:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3606,
          "referenceAllele": "T",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.3606T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3514,
          "referenceAllele": "T",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.3514T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3653,
          "referenceAllele": "T",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*1714T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*1714T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3043,
          "referenceAllele": "T",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.3043T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3684,
          "referenceAllele": "T",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.3684T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3717,
          "referenceAllele": "T",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.3717T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3654,
          "referenceAllele": "T",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.3654T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.3611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3499,
          "referenceAllele": "T",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*1754T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3424,
          "referenceAllele": "T",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.3383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Phe1128Cys",
        "hgvsWellDefined": "ENSP00000506935.1:p.Phe1128Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3476,
          "referenceAllele": "T",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*3247T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*3247T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3681,
          "referenceAllele": "T",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*1938T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*1938T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Phe1182Cys",
        "hgvsWellDefined": "ENSP00000303960.4:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Phe1181Cys",
        "hgvsWellDefined": "ENSP00000374467.4:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3542T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3542T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Phe1181Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Phe1181Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3574,
          "referenceAllele": "T",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Phe1180Cys",
        "hgvsWellDefined": "ENSP00000493749.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "referenceAllele": "T",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.1626T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3496,
          "referenceAllele": "T",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.3496T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3324,
          "referenceAllele": "T",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.3324T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Phe1181Cys",
        "hgvsWellDefined": "ENSP00000494450.1:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3602,
          "referenceAllele": "T",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*1518T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*1518T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "T",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.1666T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "T",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644447.1:c.1898T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496282.1:p.Phe633Cys",
        "hgvsWellDefined": "ENSP00000496282.1:p.Phe633Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3540,
          "referenceAllele": "T",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*1797T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*1797T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3670,
          "referenceAllele": "T",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*1714T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*1714T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3594,
          "referenceAllele": "T",
          "start": 3593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*1827T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*1827T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3639,
          "referenceAllele": "T",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.3608T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Phe1203Cys",
        "hgvsWellDefined": "ENSP00000494321.1:p.Phe1203Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.1:n.681T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2741,
          "referenceAllele": "T",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.2741T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "T",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645417.1:c.708T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*1806T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*1806T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3817,
          "referenceAllele": "T",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.3817T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3690,
          "referenceAllele": "T",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.*679T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.*679T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "T",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*1498T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*1498T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3490,
          "referenceAllele": "T",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*2009T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*2009T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3553,
          "referenceAllele": "T",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*1815T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*1815T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2848,
          "referenceAllele": "T",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.2848T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3607,
          "referenceAllele": "T",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Phe1180Cys",
        "hgvsWellDefined": "ENSP00000494101.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3673,
          "referenceAllele": "T",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*1938T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*1938T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3548,
          "referenceAllele": "T",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.3548T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.3548T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3361,
          "referenceAllele": "T",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.3293T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Phe1098Cys",
        "hgvsWellDefined": "ENSP00000495389.1:p.Phe1098Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5417,
          "referenceAllele": "T",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*3272T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*3272T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3492,
          "referenceAllele": "T",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*1683T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*1683T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Phe1182Cys",
        "hgvsWellDefined": "ENSP00000303960.4:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Phe1181Cys",
        "hgvsWellDefined": "ENSP00000374467.3:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "T",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.1:n.674T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3455,
          "referenceAllele": "T",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.*418T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.*418T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12,
          "referenceAllele": "T",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.1:c.12T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "referenceAllele": "T",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000531137.1:n.35T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213449",
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Phe1181Cys",
        "hgvsWellDefined": "NP_000343.2:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213450",
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Phe1182Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3605,
          "referenceAllele": "T",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Phe1181Cys",
        "hgvsWellDefined": "XP_011518633.1:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Phe1182Cys",
        "hgvsWellDefined": "XP_011518634.1:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2164,
          "referenceAllele": "T",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.2042T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:p.Phe681Cys",
        "hgvsWellDefined": "XP_011518635.1:p.Phe681Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.3608T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3508,
          "referenceAllele": "T",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.3508T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3505,
          "referenceAllele": "T",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.3505T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030888",
      "coordinates": [
        {
          "allele": "G",
          "end": 3677,
          "referenceAllele": "T",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.3608T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Phe1203Cys",
        "hgvsWellDefined": "NP_001338224.1:p.Phe1203Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604783",
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Phe1181Cys",
        "hgvsWellDefined": "NP_001338225.1:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606006",
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Phe1180Cys",
        "hgvsWellDefined": "NP_001338226.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3691,
          "referenceAllele": "T",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.3691T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.3611T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Phe1204Cys",
        "hgvsWellDefined": "XP_016873686.1:p.Phe1204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3679,
          "referenceAllele": "T",
          "start": 3678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.3608T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Phe1203Cys",
        "hgvsWellDefined": "XP_016873688.1:p.Phe1203Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.3611T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Phe1204Cys",
        "hgvsWellDefined": "XP_016873690.1:p.Phe1204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3475,
          "referenceAllele": "T",
          "start": 3474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.2108T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:p.Phe703Cys",
        "hgvsWellDefined": "XP_016873691.1:p.Phe703Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "referenceAllele": "T",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.1499T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:p.Phe500Cys",
        "hgvsWellDefined": "XP_016873693.1:p.Phe500Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4626,
          "referenceAllele": "T",
          "start": 4625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.1910T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:p.Phe637Cys",
        "hgvsWellDefined": "XP_024304436.1:p.Phe637Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.3683T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.3614T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3763,
          "referenceAllele": "T",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.3763T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213449",
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Phe1181Cys",
        "hgvsWellDefined": "NP_000343.2:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3542T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3542T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Phe1181Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Phe1181Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA213450",
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Phe1182Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030888",
      "coordinates": [
        {
          "allele": "G",
          "end": 3677,
          "referenceAllele": "T",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.3608T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Phe1203Cys",
        "hgvsWellDefined": "NP_001338224.1:p.Phe1203Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604783",
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.3542T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Phe1181Cys",
        "hgvsWellDefined": "NP_001338225.1:p.Phe1181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606006",
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.3539T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Phe1180Cys",
        "hgvsWellDefined": "NP_001338226.1:p.Phe1180Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3691,
          "referenceAllele": "T",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.3691T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213450",
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "T",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.3545T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Phe1182Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Phe1182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}