{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5903857",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481321[alleleid]",
        "alleleId": 1481321,
        "preferredName": "NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459964",
        "RCV": [
          "RCV001951354",
          "RCV003321889",
          "RCV003479377"
        ],
        "variationId": 1459964
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-17485062-G-A",
        "id": "11-17485062-G-A",
        "variant": "11:17485062 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17485062G>A?assembly=hg19",
        "id": "chr11:g.17485062G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17463515G>A?assembly=hg38",
        "id": "chr11:g.17463515G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756823374",
        "rs": 756823374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17485062-G-A?dataset=gnomad_r2_1",
        "id": "11-17485062-G-A",
        "variant": "11:17485062 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17463515-G-A?dataset=gnomad_r3",
        "id": "11-17463515-G-A",
        "variant": "11:17463515 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17463515-G-A?dataset=gnomad_r4",
        "id": "11-17463515-G-A",
        "variant": "11:17463515 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17463515,
          "referenceAllele": "G",
          "start": 17463514
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17463515G>A",
        "CM000673.2:g.17463515G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17485062,
          "referenceAllele": "G",
          "start": 17485061
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17485062G>A",
        "CM000673.1:g.17485062G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17441638,
          "referenceAllele": "G",
          "start": 17441637
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17441638G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18388,
          "referenceAllele": "C",
          "start": 18387
        }
      ],
      "hgvs": [
        "NG_008867.1:g.18388C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000526002.2:n.515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528202.6:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682091.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507829.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682199.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507094.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507506.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.602C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682863.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000508229.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507768.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683253.1:n.576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000508318.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683531.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000508265.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507496.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684221.1:n.432C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.620C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507143.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000507705.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000506935.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*207C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684614.1:n.402C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000506841.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000303960.4:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000374467.4:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.502C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.502C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Arg168Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Arg168Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.6:c.381C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000635881.1:n.533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000493749.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000494450.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000496124.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644472.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495378.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495378.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000493558.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644542.1:c.*207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495532.1:n.*207C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000494567.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495085.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000494321.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000494564.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495516.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495259.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495025.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000496070.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646737.1:c.380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494874.1:p.Thr127Met",
        "hgvsWellDefined": "ENSP00000494874.1:p.Thr127Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000494101.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000493720.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:p.Arg134Cys",
        "hgvsWellDefined": "ENSP00000496741.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495389.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000493677.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000495744.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000303960.4:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000374467.3:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:p.Arg168Cys",
        "hgvsWellDefined": "ENSP00000431653.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.5:n.533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825147595",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Arg168Cys",
        "hgvsWellDefined": "NP_000343.2:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733165",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_011518633.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_011518634.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520334.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518636.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_011518636.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930891.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603142",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338224.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603989",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338225.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573203106",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338226.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_016873686.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_016873688.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_016873690.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.-1016C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:n.-1016C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.-2142C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:n.-2142C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825147595",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Arg168Cys",
        "hgvsWellDefined": "NP_000343.2:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.502C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.502C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Arg168Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Arg168Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733165",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603142",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338224.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603989",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338225.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573203106",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001338226.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733165",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg168Cys",
        "hgvsWellDefined": "NP_001274103.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}