{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126378",
  "communityStandardTitle": [
    "NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=714",
        "active": true,
        "id": "COSM714"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1133721",
        "active": true,
        "id": "COSM1133721"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31371[alleleid]",
        "alleleId": 31371,
        "preferredName": "NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16332",
        "RCV": [
          "RCV000017731",
          "RCV000017732",
          "RCV000017733",
          "RCV000017734",
          "RCV000017735",
          "RCV000425802",
          "RCV000420041",
          "RCV000432622",
          "RCV000327823",
          "RCV000425165",
          "RCV000443913",
          "RCV000414822",
          "RCV000763118",
          "RCV001196297",
          "RCV001804739",
          "RCV001526641",
          "RCV001849270",
          "RCV002243648",
          "RCV002276552",
          "RCV003155030",
          "RCV003332082",
          "RCV003388567"
        ],
        "variationId": 16332
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1803564C>T?assembly=hg19",
        "id": "chr4:g.1803564C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1801837C>T?assembly=hg38",
        "id": "chr4:g.1801837C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913482",
        "rs": 121913482
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1801837,
          "referenceAllele": "C",
          "start": 1801836
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1801837C>T",
        "CM000666.2:g.1801837C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1803564,
          "referenceAllele": "C",
          "start": 1803563
        }
      ],
      "hgvs": [
        "NC_000004.11:g.1803564C>T",
        "CM000666.1:g.1803564C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773362,
          "referenceAllele": "C",
          "start": 1773361
        }
      ],
      "hgvs": [
        "NC_000004.10:g.1773362C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13526,
          "referenceAllele": "C",
          "start": 13525
        }
      ],
      "hgvs": [
        "NG_012632.1:g.13526C>T",
        "LRG_1021:g.13526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.9:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000339824.4:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.8:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.3:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000260795.3:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000231803.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.7:c.730C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.3:p.Arg244Cys",
        "hgvsWellDefined": "ENSP00000412903.3:p.Arg244Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.8:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Arg248Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Arg248Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.7:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000260795.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.8:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000339824.4:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.5:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000231803.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000412903.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000474521.1:n.118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "C",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000507588.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427289.1:p.Arg68Cys",
        "hgvsWellDefined": "ENSP00000427289.1:p.Arg68Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000613647.4:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479472.1:p.Arg248Cys",
        "hgvsWellDefined": "ENSP00000479472.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111856",
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.4:c.742C>T",
        "LRG_1021t1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_000133.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126379",
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.1:c.742C>T",
        "LRG_1021t2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001156685.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916069215",
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.3:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_075254.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713868.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713931.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713931.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713869.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713932.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713932.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713870.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713933.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713933.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713871.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713934.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713934.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713872.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713935.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713935.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713873.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713936.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_006713936.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513420.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511722.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_011511722.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513422.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511724.1:p.Arg248Cys",
        "hgvsWellDefined": "XP_011511724.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937685",
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001341738.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938346",
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001341739.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.1:n.998C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937685",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001341738.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938346",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001341739.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.1017C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111856",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_000133.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Arg248Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Arg248Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA126379",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_001156685.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916069215",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Arg248Cys",
        "hgvsWellDefined": "NP_075254.1:p.Arg248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}