{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2923415",
  "communityStandardTitle": [
    "NM_000222.3(KIT):c.1231+13A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1408881[alleleid]",
        "alleleId": 1408881,
        "preferredName": "NM_000222.3(KIT):c.1231+13A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1500519",
        "RCV": [
          "RCV002015714"
        ],
        "variationId": 1500519
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-55575718-A-T",
        "id": "4-55575718-A-T",
        "variant": "4:55575718 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55575718A>T?assembly=hg19",
        "id": "chr4:g.55575718A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54709552A>T?assembly=hg38",
        "id": "chr4:g.54709552A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765419741",
        "rs": 765419741
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55575718-A-T?dataset=gnomad_r2_1",
        "id": "4-55575718-A-T",
        "variant": "4:55575718 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-54709552-A-T?dataset=gnomad_r3",
        "id": "4-54709552-A-T",
        "variant": "4:54709552 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-54709552-A-T?dataset=gnomad_r4",
        "id": "4-54709552-A-T",
        "variant": "4:54709552 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 54709552,
          "referenceAllele": "A",
          "start": 54709551
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54709552A>T",
        "CM000666.2:g.54709552A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 55575718,
          "referenceAllele": "A",
          "start": 55575717
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55575718A>T",
        "CM000666.1:g.55575718A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 55270475,
          "referenceAllele": "A",
          "start": 55270474
        }
      ],
      "hgvs": [
        "NC_000004.10:g.55270475A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56558,
          "referenceAllele": "A",
          "start": 56557
        }
      ],
      "hgvs": [
        "NG_007456.1:g.56558A>T",
        "LRG_307:g.56558A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.7:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.3:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1309,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685269.1:n.1309+13A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 5660,
          "referenceAllele": "A",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685816.1:c.169+5660A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508749.1:n.169+5660A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1304,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000686011.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509704.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1336,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687109.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509371.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1646,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687208.1:n.1646+13A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1299,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687246.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509114.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1401,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687265.1:n.1401+13A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1357,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687295.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509450.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689832.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509084.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1253,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689994.1:c.721+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509156.1:n.721+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1231,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690519.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508845.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690543.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508831.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690917.1:n.1449+13A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692783.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508733.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1340,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692991.1:n.1340+13A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.6:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.6:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.1231+13A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.1231+13A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:n.1231+13A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:n.1231+13A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1328,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.5:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.5:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1328,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.6:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.2:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1318,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.2:c.1231+13A>T",
        "LRG_307t1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1318,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265740.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265797.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265741.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265798.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.3:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008178.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863667.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008179.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863668.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008180.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863669.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.3:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.1231+13A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.1231+13A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:n.1231+13A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:n.1231+13A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372213.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385285.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372214.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385286.1:c.1231+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372215.1:n.1231+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385288.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372217.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385290.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372219.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1292,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385292.1:c.1234+13A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372221.1:n.1234+13A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
    }
  ],
  "type": "nucleotide"
}