{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356906459",
  "communityStandardTitle": [
    "NM_000222.3(KIT):c.1468G>C (p.Glu490Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55592144G>C?assembly=hg19",
        "id": "chr4:g.55592144G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54725978G>C?assembly=hg38",
        "id": "chr4:g.54725978G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519701",
        "rs": 1057519701
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 54725978,
          "referenceAllele": "G",
          "start": 54725977
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54725978G>C",
        "CM000666.2:g.54725978G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 55592144,
          "referenceAllele": "G",
          "start": 55592143
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55592144G>C",
        "CM000666.1:g.55592144G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 55286901,
          "referenceAllele": "G",
          "start": 55286900
        }
      ],
      "hgvs": [
        "NC_000004.10:g.55286901G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72984,
          "referenceAllele": "G",
          "start": 72983
        }
      ],
      "hgvs": [
        "NG_007456.1:g.72984G>C",
        "LRG_307:g.72984G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.7:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.3:p.Glu491Gln",
        "hgvsWellDefined": "ENSP00000390987.3:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685269.1:n.1546G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685816.1:c.406G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508749.1:p.Glu136Gln",
        "hgvsWellDefined": "ENSP00000508749.1:p.Glu136Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000686011.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509704.1:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000509704.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687109.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509371.1:p.Glu491Gln",
        "hgvsWellDefined": "ENSP00000509371.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1883,
          "referenceAllele": "G",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687208.1:n.1883G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687246.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509114.1:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000509114.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687265.1:n.1638G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1594,
          "referenceAllele": "G",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687295.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509450.1:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000509450.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "G",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689832.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509084.1:p.Glu491Gln",
        "hgvsWellDefined": "ENSP00000509084.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "G",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689994.1:c.958G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509156.1:p.Glu320Gln",
        "hgvsWellDefined": "ENSP00000509156.1:p.Glu320Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690543.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508831.1:p.Glu491Gln",
        "hgvsWellDefined": "ENSP00000508831.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690917.1:n.1686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000691361.1:n.390G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692783.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508733.1:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000508733.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692991.1:n.1577G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.6:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.6:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000288135.6:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.1468G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.1468G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Glu490Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Glu490Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.5:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.5:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000288135.5:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.6:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.2:p.Glu490Gln",
        "hgvsWellDefined": "ENSP00000390987.2:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070287097",
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.2:c.1468G>C",
        "LRG_307t1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_000213.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_001087241.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265740.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265797.1:p.Glu491Gln",
        "hgvsWellDefined": "XP_005265797.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265741.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265798.1:p.Glu491Gln",
        "hgvsWellDefined": "XP_005265798.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Glu491Gln",
        "hgvsWellDefined": "XP_005265799.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.3:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Glu491Gln",
        "hgvsWellDefined": "XP_005265799.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008178.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863667.1:p.Glu490Gln",
        "hgvsWellDefined": "XP_016863667.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008179.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863668.1:p.Glu491Gln",
        "hgvsWellDefined": "XP_016863668.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008180.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863669.1:p.Glu490Gln",
        "hgvsWellDefined": "XP_016863669.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070287097",
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.3:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_000213.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.1468G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.1468G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Glu490Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Glu490Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_001087241.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372213.1:p.Glu491Gln",
        "hgvsWellDefined": "NP_001372213.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385285.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372214.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_001372214.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385286.1:c.1468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372215.1:p.Glu490Gln",
        "hgvsWellDefined": "NP_001372215.1:p.Glu490Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385288.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372217.1:p.Glu491Gln",
        "hgvsWellDefined": "NP_001372217.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385290.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372219.1:p.Glu491Gln",
        "hgvsWellDefined": "NP_001372219.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385292.1:c.1471G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372221.1:p.Glu491Gln",
        "hgvsWellDefined": "NP_001372221.1:p.Glu491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
    }
  ],
  "type": "nucleotide"
}