{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355978425",
  "communityStandardTitle": [
    "NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1934790[alleleid]",
        "alleleId": 1934790,
        "preferredName": "NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203500",
        "RCV": [
          "RCV002651792",
          "RCV003404135"
        ],
        "variationId": 2203500
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1805519C>G?assembly=hg19",
        "id": "chr4:g.1805519C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1803792C>G?assembly=hg38",
        "id": "chr4:g.1803792C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199702395",
        "rs": 199702395
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1803792,
          "referenceAllele": "C",
          "start": 1803791
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1803792C>G",
        "CM000666.2:g.1803792C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1805519,
          "referenceAllele": "C",
          "start": 1805518
        }
      ],
      "hgvs": [
        "NC_000004.11:g.1805519C>G",
        "CM000666.1:g.1805519C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1775317,
          "referenceAllele": "C",
          "start": 1775316
        }
      ],
      "hgvs": [
        "NC_000004.10:g.1775317C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15481,
          "referenceAllele": "C",
          "start": 15480
        }
      ],
      "hgvs": [
        "NG_012632.1:g.15481C>G",
        "LRG_1021:g.15481C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1356,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1356,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.9:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.8:c.*87C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.3:n.*87C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.6:c.931-1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:n.931-1032C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.7:c.1019C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.3:p.Ser340Cys",
        "hgvsWellDefined": "ENSP00000412903.3:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.8:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Ser344Cys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Ser344Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Ser344Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.7:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Ser344Cys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000643463.1:n.227-538C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.6:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.2:p.Ser344Cys",
        "hgvsWellDefined": "ENSP00000260795.2:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1337,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.8:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.5:c.931-1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:n.931-1032C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "endIntronDirection": "-",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 1186,
          "startIntronDirection": "-",
          "startIntronOffset": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.6:c.931-1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.2:n.931-1032C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.6:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Ser344Cys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.6:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Ser344Cys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000613647.4:c.*87C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479472.1:n.*87C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825061904",
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.4:c.1031C>G",
        "LRG_1021t1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_000133.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1337,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.1:c.1082-538C>G",
        "LRG_1021t2:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "endIntronDirection": "-",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 1186,
          "startIntronDirection": "-",
          "startIntronOffset": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.3:c.931-1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:n.931-1032C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713868.1:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713931.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713869.1:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713932.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713870.1:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713933.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713871.1:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713934.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713872.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713935.1:p.Ser344Cys",
        "hgvsWellDefined": "XP_006713935.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713873.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713936.1:p.Ser344Cys",
        "hgvsWellDefined": "XP_006713936.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513420.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511722.1:p.Ser344Cys",
        "hgvsWellDefined": "XP_011511722.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513422.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511724.1:p.Ser344Cys",
        "hgvsWellDefined": "XP_011511724.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937782",
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_001341738.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580229404",
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.1:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_001341739.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.1:n.1438C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937782",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.2:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_001341738.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580229404",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.2:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_001341739.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.1457C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825061904",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Ser344Cys",
        "hgvsWellDefined": "NP_000133.1:p.Ser344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Ser344Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Ser344Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1356,
          "endIntronDirection": "-",
          "endIntronOffset": 537,
          "referenceAllele": "C",
          "start": 1356,
          "startIntronDirection": "-",
          "startIntronOffset": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.1082-538C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:n.1082-538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1205,
          "endIntronDirection": "-",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 1205,
          "startIntronDirection": "-",
          "startIntronOffset": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.931-1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:n.931-1032C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}