{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379788258",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2990396[alleleid]",
        "alleleId": 2990396,
        "preferredName": "NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2829734",
        "RCV": [
          "RCV003686414"
        ],
        "variationId": 2829734
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17417450C>G?assembly=hg19",
        "id": "chr11:g.17417450C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17395903C>G?assembly=hg38",
        "id": "chr11:g.17395903C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748233295",
        "rs": 748233295
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17395903,
          "referenceAllele": "C",
          "start": 17395902
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17395903C>G",
        "CM000673.2:g.17395903C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17417450,
          "referenceAllele": "C",
          "start": 17417449
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17417450C>G",
        "CM000673.1:g.17417450C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17374026,
          "referenceAllele": "C",
          "start": 17374025
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17374026C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86000,
          "referenceAllele": "G",
          "start": 85999
        }
      ],
      "hgvs": [
        "NG_008867.1:g.86000G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3748,
          "referenceAllele": "G",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.3748G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.2:c.738G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.2486G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3380,
          "referenceAllele": "G",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532220.2:n.3380G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5347,
          "referenceAllele": "G",
          "start": 5346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.5347G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644057.2:n.590G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.2:n.1646G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4309,
          "referenceAllele": "G",
          "start": 4308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.4309G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.4362G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4082,
          "referenceAllele": "G",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.4013G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Trp1338Ser",
        "hgvsWellDefined": "ENSP00000507829.1:p.Trp1338Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5452,
          "referenceAllele": "G",
          "start": 5451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.5452G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "G",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*2285G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*2285G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4729,
          "referenceAllele": "G",
          "start": 4728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.4729G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4321,
          "referenceAllele": "G",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*2578G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*2578G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4582,
          "referenceAllele": "G",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.4582G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4439,
          "referenceAllele": "G",
          "start": 4438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.4439G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4306,
          "referenceAllele": "G",
          "start": 4305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.4306G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4767,
          "referenceAllele": "G",
          "start": 4766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.4767G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4055,
          "referenceAllele": "G",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.*569G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.*569G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5446,
          "referenceAllele": "G",
          "start": 5445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.5446G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4126,
          "referenceAllele": "G",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.4030G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Gly1344Arg",
        "hgvsWellDefined": "ENSP00000507768.1:p.Gly1344Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4404,
          "referenceAllele": "G",
          "start": 4403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.4404G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4464,
          "referenceAllele": "G",
          "start": 4463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.4464G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.4362G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4305,
          "referenceAllele": "G",
          "start": 4304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.*1284G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.*1284G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.4362G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4294,
          "referenceAllele": "G",
          "start": 4293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*2316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*2316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5794,
          "referenceAllele": "G",
          "start": 5793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.5794G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4172,
          "referenceAllele": "G",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Gly1383Arg",
        "hgvsWellDefined": "ENSP00000507496.1:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4357,
          "referenceAllele": "G",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.4357G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5347,
          "referenceAllele": "G",
          "start": 5346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.5347G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4265,
          "referenceAllele": "G",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.4265G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4258,
          "referenceAllele": "G",
          "start": 4257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*2319G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*2319G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3794,
          "referenceAllele": "G",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.3794G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4435,
          "referenceAllele": "G",
          "start": 4434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.4435G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4468,
          "referenceAllele": "G",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.4468G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5390,
          "referenceAllele": "G",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.5390G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4586,
          "referenceAllele": "G",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.4586G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4104,
          "referenceAllele": "G",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*2359G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*2359G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4029,
          "referenceAllele": "G",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.3988G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Gly1330Arg",
        "hgvsWellDefined": "ENSP00000506935.1:p.Gly1330Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*3852G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*3852G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4286,
          "referenceAllele": "G",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*2543G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*2543G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Gly1384Arg",
        "hgvsWellDefined": "ENSP00000303960.4:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Gly1383Arg",
        "hgvsWellDefined": "ENSP00000374467.4:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.4147G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.4147G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Gly1383Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Gly1383Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.4144G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Gly1382Arg",
        "hgvsWellDefined": "ENSP00000493749.1:p.Gly1382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2201,
          "referenceAllele": "G",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.2201G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5232,
          "referenceAllele": "G",
          "start": 5231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.5232G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3929,
          "referenceAllele": "G",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.3929G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Gly1383Arg",
        "hgvsWellDefined": "ENSP00000494450.1:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4353,
          "referenceAllele": "G",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*2269G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*2269G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2787,
          "referenceAllele": "G",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.2787G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644057.1:n.224G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5276,
          "referenceAllele": "G",
          "start": 5275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*3533G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*3533G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4275,
          "referenceAllele": "G",
          "start": 4274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*2319G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*2319G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4969,
          "endIntronDirection": "+",
          "endIntronOffset": 361,
          "referenceAllele": "G",
          "start": 4969,
          "startIntronDirection": "+",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*3202+361G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*3202+361G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4244,
          "referenceAllele": "G",
          "start": 4243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.4213G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Gly1405Arg",
        "hgvsWellDefined": "ENSP00000494321.1:p.Gly1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.1:n.1840G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3346,
          "referenceAllele": "G",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.3346G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645417.1:c.1335G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4996,
          "referenceAllele": "G",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*3912G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*3912G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4568,
          "referenceAllele": "G",
          "start": 4567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.4568G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4441,
          "referenceAllele": "G",
          "start": 4440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.*1430G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.*1430G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*2249G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*2249G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4465,
          "referenceAllele": "G",
          "start": 4464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*2984G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*2984G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5289,
          "referenceAllele": "G",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*3551G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*3551G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3453,
          "referenceAllele": "G",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.3453G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4182,
          "referenceAllele": "G",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.4114G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Gly1372Arg",
        "hgvsWellDefined": "ENSP00000494101.1:p.Gly1372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4424,
          "referenceAllele": "G",
          "start": 4423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*2689G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*2689G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "referenceAllele": "G",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.4153G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.4153G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3966,
          "referenceAllele": "G",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.3898G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Gly1300Arg",
        "hgvsWellDefined": "ENSP00000495389.1:p.Gly1300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5878,
          "referenceAllele": "G",
          "start": 5877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*3733G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*3733G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4243,
          "referenceAllele": "G",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*2434G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*2434G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Gly1384Arg",
        "hgvsWellDefined": "ENSP00000303960.4:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Gly1383Arg",
        "hgvsWellDefined": "ENSP00000374467.3:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000525022.1:n.13G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15,
          "referenceAllele": "G",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000526168.5:c.15G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825148744",
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Gly1383Arg",
        "hgvsWellDefined": "NP_000343.2:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733988",
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Gly1384Arg",
        "hgvsWellDefined": "NP_001274103.1:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4210,
          "referenceAllele": "G",
          "start": 4209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Gly1383Arg",
        "hgvsWellDefined": "XP_011518633.1:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4213,
          "referenceAllele": "G",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Gly1384Arg",
        "hgvsWellDefined": "XP_011518634.1:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.2647G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:p.Gly883Arg",
        "hgvsWellDefined": "XP_011518635.1:p.Gly883Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4213,
          "referenceAllele": "G",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.4213G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573071049",
      "coordinates": [
        {
          "allele": "C",
          "end": 4282,
          "referenceAllele": "G",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.4213G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Gly1405Arg",
        "hgvsWellDefined": "NP_001338224.1:p.Gly1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604962",
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Gly1383Arg",
        "hgvsWellDefined": "NP_001338225.1:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606186",
      "coordinates": [
        {
          "allele": "C",
          "end": 4213,
          "referenceAllele": "G",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.4144G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Gly1382Arg",
        "hgvsWellDefined": "NP_001338226.1:p.Gly1382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4442,
          "referenceAllele": "G",
          "start": 4441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.4442G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4288,
          "referenceAllele": "G",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.4216G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Gly1406Arg",
        "hgvsWellDefined": "XP_016873686.1:p.Gly1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4284,
          "referenceAllele": "G",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.4213G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Gly1405Arg",
        "hgvsWellDefined": "XP_016873688.1:p.Gly1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4288,
          "referenceAllele": "G",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.4216G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Gly1406Arg",
        "hgvsWellDefined": "XP_016873690.1:p.Gly1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4080,
          "referenceAllele": "G",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.2713G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:p.Gly905Arg",
        "hgvsWellDefined": "XP_016873691.1:p.Gly905Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3192,
          "referenceAllele": "G",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.2104G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:p.Gly702Arg",
        "hgvsWellDefined": "XP_016873693.1:p.Gly702Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5231,
          "referenceAllele": "G",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:p.Gly839Arg",
        "hgvsWellDefined": "XP_024304436.1:p.Gly839Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4288,
          "referenceAllele": "G",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.4288G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.4219G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5869,
          "referenceAllele": "G",
          "start": 5868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.5869G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825148744",
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Gly1383Arg",
        "hgvsWellDefined": "NP_000343.2:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.4147G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.4147G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Gly1383Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Gly1383Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733988",
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Gly1384Arg",
        "hgvsWellDefined": "NP_001274103.1:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573071049",
      "coordinates": [
        {
          "allele": "C",
          "end": 4282,
          "referenceAllele": "G",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.4213G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Gly1405Arg",
        "hgvsWellDefined": "NP_001338224.1:p.Gly1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827604962",
      "coordinates": [
        {
          "allele": "C",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.4147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Gly1383Arg",
        "hgvsWellDefined": "NP_001338225.1:p.Gly1383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827606186",
      "coordinates": [
        {
          "allele": "C",
          "end": 4213,
          "referenceAllele": "G",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.4144G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Gly1382Arg",
        "hgvsWellDefined": "NP_001338226.1:p.Gly1382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4442,
          "referenceAllele": "G",
          "start": 4441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.4442G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826733988",
      "coordinates": [
        {
          "allele": "C",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.4150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Gly1384Arg",
        "hgvsWellDefined": "NP_001274103.1:p.Gly1384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}