{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280221",
  "communityStandardTitle": [
    "NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3993567",
        "active": true,
        "id": "COSM3993567"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3993568",
        "active": true,
        "id": "COSM3993568"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31386[alleleid]",
        "alleleId": 31386,
        "preferredName": "NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16347",
        "RCV": [
          "RCV000017756",
          "RCV001269938",
          "RCV002496393"
        ],
        "variationId": 16347
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1807891G>C?assembly=hg19",
        "id": "chr4:g.1807891G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1806164G>C?assembly=hg38",
        "id": "chr4:g.1806164G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28928868",
        "rs": 28928868
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1807891-G-C?dataset=gnomad_r2_1",
        "id": "4-1807891-G-C",
        "variant": "4:1807891 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1806164-G-C?dataset=gnomad_r4",
        "id": "4-1806164-G-C",
        "variant": "4:1806164 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1806164,
          "referenceAllele": "G",
          "start": 1806163
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1806164G>C",
        "CM000666.2:g.1806164G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1807891,
          "referenceAllele": "G",
          "start": 1807890
        }
      ],
      "hgvs": [
        "NC_000004.11:g.1807891G>C",
        "CM000666.1:g.1807891G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1777689,
          "referenceAllele": "G",
          "start": 1777688
        }
      ],
      "hgvs": [
        "NC_000004.10:g.1777689G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17853,
          "referenceAllele": "G",
          "start": 17852
        }
      ],
      "hgvs": [
        "NG_012632.1:g.17853G>C",
        "LRG_1021:g.17853G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.9:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Lys652Asn",
        "hgvsWellDefined": "ENSP00000339824.4:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2357,
          "referenceAllele": "G",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.8:c.*1006G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.3:n.*1006G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.6:c.1614G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Lys538Asn",
        "hgvsWellDefined": "ENSP00000231803.1:p.Lys538Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.7:c.1938G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.3:p.Lys646Asn",
        "hgvsWellDefined": "ENSP00000412903.3:p.Lys646Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.8:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Lys650Asn",
        "hgvsWellDefined": "ENSP00000414914.2:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1950G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1950G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Lys650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Lys650Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2220,
          "referenceAllele": "G",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.7:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Lys651Asn",
        "hgvsWellDefined": "ENSP00000420533.2:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2052,
          "referenceAllele": "G",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.6:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.2:p.Lys650Asn",
        "hgvsWellDefined": "ENSP00000260795.2:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.8:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Lys652Asn",
        "hgvsWellDefined": "ENSP00000339824.4:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.5:c.1614G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Lys538Asn",
        "hgvsWellDefined": "ENSP00000231803.1:p.Lys538Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.6:c.1614G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.2:p.Lys538Asn",
        "hgvsWellDefined": "ENSP00000412903.2:p.Lys538Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.6:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Lys650Asn",
        "hgvsWellDefined": "ENSP00000414914.2:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.6:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Lys651Asn",
        "hgvsWellDefined": "ENSP00000420533.2:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2357,
          "referenceAllele": "G",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000613647.4:c.*1006G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479472.1:n.*1006G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280222",
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.4:c.1950G>C",
        "LRG_1021t1:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Lys650Asn",
        "hgvsWellDefined": "NP_000133.1:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280223",
      "coordinates": [
        {
          "allele": "C",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.1:c.1956G>C",
        "LRG_1021t2:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Lys652Asn",
        "hgvsWellDefined": "NP_001156685.1:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004916",
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.3:c.1614G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Lys538Asn",
        "hgvsWellDefined": "NP_075254.1:p.Lys538Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713868.1:c.1962G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713931.1:p.Lys654Asn",
        "hgvsWellDefined": "XP_006713931.1:p.Lys654Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713869.1:c.1962G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713932.1:p.Lys654Asn",
        "hgvsWellDefined": "XP_006713932.1:p.Lys654Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713870.1:c.1959G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713933.1:p.Lys653Asn",
        "hgvsWellDefined": "XP_006713933.1:p.Lys653Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713871.1:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713934.1:p.Lys652Asn",
        "hgvsWellDefined": "XP_006713934.1:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713872.1:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713935.1:p.Lys651Asn",
        "hgvsWellDefined": "XP_006713935.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713873.1:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713936.1:p.Lys650Asn",
        "hgvsWellDefined": "XP_006713936.1:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513420.1:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511722.1:p.Lys652Asn",
        "hgvsWellDefined": "XP_011511722.1:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513422.1:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511724.1:p.Lys651Asn",
        "hgvsWellDefined": "XP_011511724.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938052",
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.1:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Lys651Asn",
        "hgvsWellDefined": "NP_001341738.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938680",
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.1:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Lys651Asn",
        "hgvsWellDefined": "NP_001341739.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2357,
          "referenceAllele": "G",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.1:n.2357G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938052",
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.2:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Lys651Asn",
        "hgvsWellDefined": "NP_001341738.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938680",
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.2:c.1953G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Lys651Asn",
        "hgvsWellDefined": "NP_001341739.1:p.Lys651Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2376,
          "referenceAllele": "G",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.2376G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280222",
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.1950G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Lys650Asn",
        "hgvsWellDefined": "NP_000133.1:p.Lys650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1950G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1950G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Lys650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Lys650Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA280223",
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Lys652Asn",
        "hgvsWellDefined": "NP_001156685.1:p.Lys652Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004916",
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.1614G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Lys538Asn",
        "hgvsWellDefined": "NP_075254.1:p.Lys538Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}