{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602411",
  "communityStandardTitle": [
    "NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1321",
        "active": true,
        "id": "COSM1321"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362810[alleleid]",
        "alleleId": 362810,
        "preferredName": "NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375931",
        "RCV": [
          "RCV000429954",
          "RCV000419670",
          "RCV000436687",
          "RCV001269701"
        ],
        "variationId": 375931
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55599340T>A?assembly=hg19",
        "id": "chr4:g.55599340T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54733174T>A?assembly=hg38",
        "id": "chr4:g.54733174T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913514",
        "rs": 121913514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 54733174,
          "referenceAllele": "T",
          "start": 54733173
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54733174T>A",
        "CM000666.2:g.54733174T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 55599340,
          "referenceAllele": "T",
          "start": 55599339
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55599340T>A",
        "CM000666.1:g.55599340T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 55294097,
          "referenceAllele": "T",
          "start": 55294096
        }
      ],
      "hgvs": [
        "NC_000004.10:g.55294097T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80180,
          "referenceAllele": "T",
          "start": 80179
        }
      ],
      "hgvs": [
        "NG_007456.1:g.80180T>A",
        "LRG_307:g.80180T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "T",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.7:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.3:p.Asn818Lys",
        "hgvsWellDefined": "ENSP00000390987.3:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "T",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685269.1:n.2544T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "T",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000686011.1:c.2451T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509704.1:p.Asn817Lys",
        "hgvsWellDefined": "ENSP00000509704.1:p.Asn817Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2571,
          "referenceAllele": "T",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687109.1:c.2469T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509371.1:p.Asn823Lys",
        "hgvsWellDefined": "ENSP00000509371.1:p.Asn823Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2878,
          "referenceAllele": "T",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687208.1:n.2878T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2417,
          "endIntronDirection": "+",
          "endIntronOffset": 1176,
          "referenceAllele": "T",
          "start": 2417,
          "startIntronDirection": "+",
          "startIntronOffset": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687246.1:c.2349+1176T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509114.1:n.2349+1176T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2624,
          "referenceAllele": "T",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687265.1:n.2624T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "T",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687295.1:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509450.1:p.Asn818Lys",
        "hgvsWellDefined": "ENSP00000509450.1:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "T",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000688060.1:n.263T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "T",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000688704.1:n.1478T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2514,
          "referenceAllele": "T",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689832.1:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509084.1:p.Asn822Lys",
        "hgvsWellDefined": "ENSP00000509084.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "T",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689994.1:c.1956T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509156.1:p.Asn652Lys",
        "hgvsWellDefined": "ENSP00000509156.1:p.Asn652Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "T",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690543.1:c.2457T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508831.1:p.Asn819Lys",
        "hgvsWellDefined": "ENSP00000508831.1:p.Asn819Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "T",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690917.1:n.2684T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "T",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000691361.1:n.1376T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "T",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692783.1:c.2463T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508733.1:p.Asn821Lys",
        "hgvsWellDefined": "ENSP00000508733.1:p.Asn821Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "T",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692991.1:n.2563T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "T",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.6:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.6:p.Asn822Lys",
        "hgvsWellDefined": "ENSP00000288135.6:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.2466T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.2466T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Asn822Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Asn822Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "T",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.5:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.5:p.Asn822Lys",
        "hgvsWellDefined": "ENSP00000288135.5:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2551,
          "referenceAllele": "T",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.6:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.2:p.Asn818Lys",
        "hgvsWellDefined": "ENSP00000390987.2:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "T",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000512959.1:n.519T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645488790",
      "coordinates": [
        {
          "allele": "A",
          "end": 2553,
          "referenceAllele": "T",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.2:c.2466T>A",
        "LRG_307t1:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Asn822Lys",
        "hgvsWellDefined": "NP_000213.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825523626",
      "coordinates": [
        {
          "allele": "A",
          "end": 2541,
          "referenceAllele": "T",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.1:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Asn818Lys",
        "hgvsWellDefined": "NP_001087241.1:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2527,
          "referenceAllele": "T",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265740.1:c.2469T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265797.1:p.Asn823Lys",
        "hgvsWellDefined": "XP_005265797.1:p.Asn823Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "T",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265741.1:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265798.1:p.Asn822Lys",
        "hgvsWellDefined": "XP_005265798.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "T",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.1:c.2457T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Asn819Lys",
        "hgvsWellDefined": "XP_005265799.1:p.Asn819Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "T",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.3:c.2457T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:p.Asn819Lys",
        "hgvsWellDefined": "XP_005265799.1:p.Asn819Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "T",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008178.1:c.2463T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863667.1:p.Asn821Lys",
        "hgvsWellDefined": "XP_016863667.1:p.Asn821Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "referenceAllele": "T",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008179.1:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863668.1:p.Asn818Lys",
        "hgvsWellDefined": "XP_016863668.1:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2509,
          "referenceAllele": "T",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008180.1:c.2451T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863669.1:p.Asn817Lys",
        "hgvsWellDefined": "XP_016863669.1:p.Asn817Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645488790",
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "T",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.3:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:p.Asn822Lys",
        "hgvsWellDefined": "NP_000213.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.2466T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.2466T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:p.Asn822Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:p.Asn822Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825523626",
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "referenceAllele": "T",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:p.Asn818Lys",
        "hgvsWellDefined": "NP_001087241.1:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077770",
      "coordinates": [
        {
          "allele": "A",
          "end": 2527,
          "referenceAllele": "T",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.2469T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372213.1:p.Asn823Lys",
        "hgvsWellDefined": "NP_001372213.1:p.Asn823Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828967287",
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "T",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385285.1:c.2463T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372214.1:p.Asn821Lys",
        "hgvsWellDefined": "NP_001372214.1:p.Asn821Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828971186",
      "coordinates": [
        {
          "allele": "A",
          "end": 2509,
          "referenceAllele": "T",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385286.1:c.2451T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372215.1:p.Asn817Lys",
        "hgvsWellDefined": "NP_001372215.1:p.Asn817Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829020262",
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "T",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385288.1:c.2457T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372217.1:p.Asn819Lys",
        "hgvsWellDefined": "NP_001372217.1:p.Asn819Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829021922",
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "T",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385290.1:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372219.1:p.Asn822Lys",
        "hgvsWellDefined": "NP_001372219.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829023219",
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "referenceAllele": "T",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385292.1:c.2454T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372221.1:p.Asn818Lys",
        "hgvsWellDefined": "NP_001372221.1:p.Asn818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
    }
  ],
  "type": "nucleotide"
}