{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5902801",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=867618[alleleid]",
        "alleleId": 867618,
        "preferredName": "NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/879518",
        "RCV": [
          "RCV001107095",
          "RCV001107094",
          "RCV001107096",
          "RCV001278394",
          "RCV001435820",
          "RCV002245860",
          "RCV002245859"
        ],
        "variationId": 879518
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-17426154-G-A",
        "id": "11-17426154-G-A",
        "variant": "11:17426154 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17426154G>A?assembly=hg19",
        "id": "chr11:g.17426154G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17404607G>A?assembly=hg38",
        "id": "chr11:g.17404607G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/540122589",
        "rs": 540122589
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17426154-G-A?dataset=gnomad_r2_1",
        "id": "11-17426154-G-A",
        "variant": "11:17426154 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17404607-G-A?dataset=gnomad_r3",
        "id": "11-17404607-G-A",
        "variant": "11:17404607 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17404607-G-A?dataset=gnomad_r4",
        "id": "11-17404607-G-A",
        "variant": "11:17404607 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17404607,
          "referenceAllele": "G",
          "start": 17404606
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17404607G>A",
        "CM000673.2:g.17404607G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17426154,
          "referenceAllele": "G",
          "start": 17426153
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17426154G>A",
        "CM000673.1:g.17426154G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17382730,
          "referenceAllele": "G",
          "start": 17382729
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17382730G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77296,
          "referenceAllele": "C",
          "start": 77295
        }
      ],
      "hgvs": [
        "NG_008867.1:g.77296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.3031C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "referenceAllele": "C",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.2:c.41C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.1801C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532220.2:n.1194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.2:n.961C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3478,
          "referenceAllele": "C",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.3478C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4767,
          "referenceAllele": "C",
          "start": 4766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.4767C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3382,
          "referenceAllele": "C",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*1600C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.3528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "referenceAllele": "C",
          "start": 3635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*1893C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*1893C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3751,
          "referenceAllele": "C",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.3751C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "C",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.3608C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3475,
          "referenceAllele": "C",
          "start": 3474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.3475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.3528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3465,
          "endIntronDirection": "+",
          "endIntronOffset": 887,
          "referenceAllele": "C",
          "start": 3465,
          "startIntronDirection": "+",
          "startIntronOffset": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.3396+887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.3396+887C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3630,
          "referenceAllele": "C",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.3630C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3555,
          "referenceAllele": "C",
          "start": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3687,
          "referenceAllele": "C",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.3687C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3633,
          "referenceAllele": "C",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.3633C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3620,
          "referenceAllele": "C",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.*599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.*599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3609,
          "referenceAllele": "C",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*1631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*1631C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "C",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.3608C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3487,
          "referenceAllele": "C",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "C",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.3526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3434,
          "referenceAllele": "C",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.3434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3573,
          "referenceAllele": "C",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*1634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*1634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "referenceAllele": "C",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.2963C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
          "referenceAllele": "C",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.3604C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.3637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3574,
          "referenceAllele": "C",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.3574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.3531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*1674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*1674C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3344,
          "referenceAllele": "C",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.3303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Ala1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3396,
          "referenceAllele": "C",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*3167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*3167C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3601,
          "referenceAllele": "C",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*1858C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*1858C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3462C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3462C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Ala1154="
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Ala1154="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3494,
          "referenceAllele": "C",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.1546C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "referenceAllele": "C",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.3416C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3244,
          "referenceAllele": "C",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.3244C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3522,
          "referenceAllele": "C",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*1438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*1438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.1586C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644447.1:c.1818C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496282.1:p.Ala606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*1717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*1717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3590,
          "referenceAllele": "C",
          "start": 3589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*1634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*1634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3514,
          "referenceAllele": "C",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*1747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*1747C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3559,
          "referenceAllele": "C",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.3528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Ala1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.1:n.601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.2661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645417.1:c.628C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2810,
          "referenceAllele": "C",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*1726C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3737,
          "referenceAllele": "C",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.3737C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3610,
          "referenceAllele": "C",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.*599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.*599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3200,
          "referenceAllele": "C",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*1418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*1418C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3410,
          "referenceAllele": "C",
          "start": 3409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*1929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*1929C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3473,
          "referenceAllele": "C",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*1735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*1735C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.2768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3527,
          "referenceAllele": "C",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3593,
          "referenceAllele": "C",
          "start": 3592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*1858C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*1858C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3468,
          "referenceAllele": "C",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.3468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.3468C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3281,
          "referenceAllele": "C",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.3213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Ala1071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5337,
          "referenceAllele": "C",
          "start": 5336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*3192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*3192C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3412,
          "referenceAllele": "C",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*1603C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*1603C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.1:n.594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3375,
          "referenceAllele": "C",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.*338C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.*338C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825148515",
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733826",
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3525,
          "referenceAllele": "C",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.1962C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:p.Ala654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.3528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3428,
          "referenceAllele": "C",
          "start": 3427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.3428C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3425,
          "referenceAllele": "C",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.3425C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603613",
      "coordinates": [
        {
          "allele": "T",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.3528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Ala1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604755",
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827605978",
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3611,
          "referenceAllele": "C",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.3611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3603,
          "referenceAllele": "C",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.3531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Ala1177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3599,
          "referenceAllele": "C",
          "start": 3598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.3528C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Ala1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3603,
          "referenceAllele": "C",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.3531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Ala1177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3395,
          "referenceAllele": "C",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.2028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:p.Ala676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.1419C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:p.Ala473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4546,
          "referenceAllele": "C",
          "start": 4545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.1830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:p.Ala610="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3603,
          "referenceAllele": "C",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.3603C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.3534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3683,
          "referenceAllele": "C",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.3683C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825148515",
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3462C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3462C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Ala1154="
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Ala1154="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733826",
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827603613",
      "coordinates": [
        {
          "allele": "T",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.3528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Ala1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604755",
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.3462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Ala1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827605978",
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.3459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Ala1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3611,
          "referenceAllele": "C",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.3611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733826",
      "coordinates": [
        {
          "allele": "T",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.3465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ala1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}