{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356913026",
  "communityStandardTitle": [
    "NM_000222.3(KIT):c.2515G>C (p.Glu839Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55602694G>C?assembly=hg19",
        "id": "chr4:g.55602694G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54736528G>C?assembly=hg38",
        "id": "chr4:g.54736528G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913509",
        "rs": 121913509
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 54736528,
          "referenceAllele": "G",
          "start": 54736527
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54736528G>C",
        "CM000666.2:g.54736528G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 55602694,
          "referenceAllele": "G",
          "start": 55602693
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55602694G>C",
        "CM000666.1:g.55602694G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 55297451,
          "referenceAllele": "G",
          "start": 55297450
        }
      ],
      "hgvs": [
        "NC_000004.10:g.55297451G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83534,
          "referenceAllele": "G",
          "start": 83533
        }
      ],
      "hgvs": [
        "NG_007456.1:g.83534G>C",
        "LRG_307:g.83534G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "G",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.7:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.3:p.Glu835Gln",
        "hgvsWellDefined": "ENSP00000390987.3:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000684818.1:n.1207G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "G",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685269.1:n.2593G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000686011.1:c.2500G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509704.1:p.Glu834Gln",
        "hgvsWellDefined": "ENSP00000509704.1:p.Glu834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2620,
          "referenceAllele": "G",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687109.1:c.2518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509371.1:p.Glu840Gln",
        "hgvsWellDefined": "ENSP00000509371.1:p.Glu840Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2927,
          "referenceAllele": "G",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687208.1:n.2927G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687246.1:c.2380G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509114.1:p.Glu794Gln",
        "hgvsWellDefined": "ENSP00000509114.1:p.Glu794Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2673,
          "referenceAllele": "G",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687265.1:n.2673G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2629,
          "referenceAllele": "G",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687295.1:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509450.1:p.Glu835Gln",
        "hgvsWellDefined": "ENSP00000509450.1:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000688060.1:n.312G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689832.1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509084.1:p.Glu839Gln",
        "hgvsWellDefined": "ENSP00000509084.1:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2537,
          "referenceAllele": "G",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689994.1:c.2005G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509156.1:p.Glu669Gln",
        "hgvsWellDefined": "ENSP00000509156.1:p.Glu669Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690543.1:c.2506G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508831.1:p.Glu836Gln",
        "hgvsWellDefined": "ENSP00000508831.1:p.Glu836Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2733,
          "referenceAllele": "G",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690917.1:n.2733G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000691361.1:n.1425G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692301.1:n.1207G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692783.1:c.2512G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508733.1:p.Glu838Gln",
        "hgvsWellDefined": "ENSP00000508733.1:p.Glu838Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2612,
          "referenceAllele": "G",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692991.1:n.2612G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.6:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.6:p.Glu839Gln",
        "hgvsWellDefined": "ENSP00000288135.6:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.2515G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.2515G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Glu839Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Glu839Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2612,
          "referenceAllele": "G",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.5:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.5:p.Glu839Gln",
        "hgvsWellDefined": "ENSP00000288135.5:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2600,
          "referenceAllele": "G",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.6:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.2:p.Glu835Gln",
        "hgvsWellDefined": "ENSP00000390987.2:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888305",
      "coordinates": [
        {
          "allele": "C",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.2:c.2515G>C",
        "LRG_307t1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Glu839Gln",
        "hgvsWellDefined": "NP_000213.1:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.1:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Glu835Gln",
        "hgvsWellDefined": "NP_001087241.1:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265740.1:c.2518G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265797.1:p.Glu840Gln",
        "hgvsWellDefined": "XP_005265797.1:p.Glu840Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265741.1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265798.1:p.Glu839Gln",
        "hgvsWellDefined": "XP_005265798.1:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.1:c.2506G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Glu836Gln",
        "hgvsWellDefined": "XP_005265799.1:p.Glu836Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.3:c.2506G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Glu836Gln",
        "hgvsWellDefined": "XP_005265799.1:p.Glu836Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008178.1:c.2512G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863667.1:p.Glu838Gln",
        "hgvsWellDefined": "XP_016863667.1:p.Glu838Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008179.1:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863668.1:p.Glu835Gln",
        "hgvsWellDefined": "XP_016863668.1:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2558,
          "referenceAllele": "G",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008180.1:c.2500G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863669.1:p.Glu834Gln",
        "hgvsWellDefined": "XP_016863669.1:p.Glu834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888305",
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.3:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Glu839Gln",
        "hgvsWellDefined": "NP_000213.1:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.2515G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.2515G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Glu839Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Glu839Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Glu835Gln",
        "hgvsWellDefined": "NP_001087241.1:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.2518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372213.1:p.Glu840Gln",
        "hgvsWellDefined": "NP_001372213.1:p.Glu840Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385285.1:c.2512G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372214.1:p.Glu838Gln",
        "hgvsWellDefined": "NP_001372214.1:p.Glu838Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2558,
          "referenceAllele": "G",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385286.1:c.2500G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372215.1:p.Glu834Gln",
        "hgvsWellDefined": "NP_001372215.1:p.Glu834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385288.1:c.2506G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372217.1:p.Glu836Gln",
        "hgvsWellDefined": "NP_001372217.1:p.Glu836Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385290.1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372219.1:p.Glu839Gln",
        "hgvsWellDefined": "NP_001372219.1:p.Glu839Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385292.1:c.2503G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372221.1:p.Glu835Gln",
        "hgvsWellDefined": "NP_001372221.1:p.Glu835Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
    }
  ],
  "type": "nucleotide"
}