{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5902756",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6284750"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237314[alleleid]",
        "alleleId": 237314,
        "preferredName": "NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235633",
        "RCV": [
          "RCV000223959",
          "RCV000666191",
          "RCV000588494",
          "RCV003469115",
          "RCV001828097"
        ],
        "variationId": 235633
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-17424218-G-A",
        "id": "11-17424218-G-A",
        "variant": "11:17424218 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17424218G>A?assembly=hg19",
        "id": "chr11:g.17424218G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17402671G>A?assembly=hg38",
        "id": "chr11:g.17402671G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139964066",
        "rs": 139964066
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17424218-G-A?dataset=gnomad_r2_1",
        "id": "11-17424218-G-A",
        "variant": "11:17424218 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17402671-G-A?dataset=gnomad_r3",
        "id": "11-17402671-G-A",
        "variant": "11:17402671 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17402671-G-A?dataset=gnomad_r4",
        "id": "11-17402671-G-A",
        "variant": "11:17402671 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17402671,
          "referenceAllele": "G",
          "start": 17402670
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17402671G>A",
        "CM000673.2:g.17402671G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17424218,
          "referenceAllele": "G",
          "start": 17424217
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17424218G>A",
        "CM000673.1:g.17424218G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17380794,
          "referenceAllele": "G",
          "start": 17380793
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17380794G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79232,
          "referenceAllele": "C",
          "start": 79231
        }
      ],
      "hgvs": [
        "NG_008867.1:g.79232C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3209,
          "referenceAllele": "C",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.3209C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.2:c.219C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.1979C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532220.2:n.1372C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644057.2:n.83C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.2:n.1139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3656,
          "referenceAllele": "C",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.3656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Arg1213Trp",
        "hgvsWellDefined": "ENSP00000507829.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4945,
          "referenceAllele": "C",
          "start": 4944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.4945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3560,
          "referenceAllele": "C",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*1778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*1778C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.3706C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3814,
          "referenceAllele": "C",
          "start": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*2071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*2071C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3929,
          "referenceAllele": "C",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.3929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3786,
          "referenceAllele": "C",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.3786C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3653,
          "referenceAllele": "C",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.3653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.3706C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3548,
          "referenceAllele": "C",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.*62C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.*62C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3808,
          "referenceAllele": "C",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.3808C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3733,
          "referenceAllele": "C",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Arg1213Trp",
        "hgvsWellDefined": "ENSP00000507768.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3865,
          "referenceAllele": "C",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.3865C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "C",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.3811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3798,
          "referenceAllele": "C",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.*777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.*777C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3787,
          "referenceAllele": "C",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*1809C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3786,
          "referenceAllele": "C",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.3786C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3665,
          "referenceAllele": "C",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Arg1214Trp",
        "hgvsWellDefined": "ENSP00000507496.1:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3704,
          "referenceAllele": "C",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.3704C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3612,
          "referenceAllele": "C",
          "start": 3611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.3612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3751,
          "referenceAllele": "C",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*1812C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3141,
          "referenceAllele": "C",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.3141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3782,
          "referenceAllele": "C",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.3782C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3815,
          "referenceAllele": "C",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.3815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3752,
          "referenceAllele": "C",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.3752C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.3709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*1852C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*1852C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3522,
          "referenceAllele": "C",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.3481C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Arg1161Trp",
        "hgvsWellDefined": "ENSP00000506935.1:p.Arg1161Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3574,
          "referenceAllele": "C",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*3345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*3345C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3779,
          "referenceAllele": "C",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*2036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*2036C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Arg1215Trp",
        "hgvsWellDefined": "ENSP00000303960.4:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Arg1214Trp",
        "hgvsWellDefined": "ENSP00000374467.4:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3640C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3640C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Arg1214Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Arg1214Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3672,
          "referenceAllele": "C",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Arg1213Trp",
        "hgvsWellDefined": "ENSP00000493749.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.1724C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3594,
          "referenceAllele": "C",
          "start": 3593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.3594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3422,
          "referenceAllele": "C",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.3422C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Arg1214Trp",
        "hgvsWellDefined": "ENSP00000494450.1:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3700,
          "referenceAllele": "C",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*1616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*1616C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.1764C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644447.1:c.1996C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496282.1:p.Arg666Trp",
        "hgvsWellDefined": "ENSP00000496282.1:p.Arg666Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3638,
          "referenceAllele": "C",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*1895C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*1895C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3768,
          "referenceAllele": "C",
          "start": 3767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*1812C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3692,
          "referenceAllele": "C",
          "start": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*1925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*1925C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3737,
          "referenceAllele": "C",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.3706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Arg1236Trp",
        "hgvsWellDefined": "ENSP00000494321.1:p.Arg1236Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.1:n.779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2839,
          "referenceAllele": "C",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.2839C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645417.1:c.806C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*1904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*1904C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3915,
          "referenceAllele": "C",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.3915C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3788,
          "referenceAllele": "C",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.*777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.*777C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3378,
          "referenceAllele": "C",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*1596C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*1596C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "C",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*2107C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*2107C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*1913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*1913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2946,
          "referenceAllele": "C",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.2946C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Arg1213Trp",
        "hgvsWellDefined": "ENSP00000494101.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3771,
          "referenceAllele": "C",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*2036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*2036C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3646,
          "referenceAllele": "C",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.3646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.3646C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3459,
          "referenceAllele": "C",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.3391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Arg1131Trp",
        "hgvsWellDefined": "ENSP00000495389.1:p.Arg1131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5515,
          "referenceAllele": "C",
          "start": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*3370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*3370C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3590,
          "referenceAllele": "C",
          "start": 3589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*1781C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*1781C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Arg1215Trp",
        "hgvsWellDefined": "ENSP00000303960.4:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Arg1214Trp",
        "hgvsWellDefined": "ENSP00000374467.3:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3553,
          "referenceAllele": "C",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.*516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.*516C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.1:c.110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "C",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000531137.1:n.133C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8,
          "referenceAllele": "C",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000531891.1:c.8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097191",
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Arg1214Trp",
        "hgvsWellDefined": "NP_000343.2:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438564",
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg1215Trp",
        "hgvsWellDefined": "NP_001274103.1:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3703,
          "referenceAllele": "C",
          "start": 3702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Arg1214Trp",
        "hgvsWellDefined": "XP_011518633.1:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Arg1215Trp",
        "hgvsWellDefined": "XP_011518634.1:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "C",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.2140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:p.Arg714Trp",
        "hgvsWellDefined": "XP_011518635.1:p.Arg714Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.3706C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.3606C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3603,
          "referenceAllele": "C",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.3603C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030895",
      "coordinates": [
        {
          "allele": "T",
          "end": 3775,
          "referenceAllele": "C",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.3706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Arg1236Trp",
        "hgvsWellDefined": "NP_001338224.1:p.Arg1236Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604812",
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Arg1214Trp",
        "hgvsWellDefined": "NP_001338225.1:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606037",
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Arg1213Trp",
        "hgvsWellDefined": "NP_001338226.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3789,
          "referenceAllele": "C",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.3789C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.3709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Arg1237Trp",
        "hgvsWellDefined": "XP_016873686.1:p.Arg1237Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3777,
          "referenceAllele": "C",
          "start": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.3706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Arg1236Trp",
        "hgvsWellDefined": "XP_016873688.1:p.Arg1236Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.3709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Arg1237Trp",
        "hgvsWellDefined": "XP_016873690.1:p.Arg1237Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3573,
          "referenceAllele": "C",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.2206C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:p.Arg736Trp",
        "hgvsWellDefined": "XP_016873691.1:p.Arg736Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2685,
          "referenceAllele": "C",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.1597C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:p.Arg533Trp",
        "hgvsWellDefined": "XP_016873693.1:p.Arg533Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4724,
          "referenceAllele": "C",
          "start": 4723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.2008C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:p.Arg670Trp",
        "hgvsWellDefined": "XP_024304436.1:p.Arg670Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.3712C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3861,
          "referenceAllele": "C",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.3861C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097191",
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Arg1214Trp",
        "hgvsWellDefined": "NP_000343.2:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3640C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3640C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Arg1214Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Arg1214Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438564",
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg1215Trp",
        "hgvsWellDefined": "NP_001274103.1:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030895",
      "coordinates": [
        {
          "allele": "T",
          "end": 3775,
          "referenceAllele": "C",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.3706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Arg1236Trp",
        "hgvsWellDefined": "NP_001338224.1:p.Arg1236Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604812",
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.3640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Arg1214Trp",
        "hgvsWellDefined": "NP_001338225.1:p.Arg1214Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606037",
      "coordinates": [
        {
          "allele": "T",
          "end": 3706,
          "referenceAllele": "C",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Arg1213Trp",
        "hgvsWellDefined": "NP_001338226.1:p.Arg1213Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3789,
          "referenceAllele": "C",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.3789C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438564",
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Arg1215Trp",
        "hgvsWellDefined": "NP_001274103.1:p.Arg1215Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}