{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341412",
  "communityStandardTitle": [
    "NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31377[alleleid]",
        "alleleId": 31377,
        "preferredName": "NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16338",
        "RCV": [
          "RCV000017741",
          "RCV000255372",
          "RCV000415460",
          "RCV000622950",
          "RCV000763122",
          "RCV001804740",
          "RCV001332222",
          "RCV002276553"
        ],
        "variationId": 16338
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1807371C>G?assembly=hg19",
        "id": "chr4:g.1807371C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1805644C>G?assembly=hg38",
        "id": "chr4:g.1805644C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933068",
        "rs": 28933068
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1805644-C-G?dataset=gnomad_r4",
        "id": "4-1805644-C-G",
        "variant": "4:1805644 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1805644,
          "referenceAllele": "C",
          "start": 1805643
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1805644C>G",
        "CM000666.2:g.1805644C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807371,
          "referenceAllele": "C",
          "start": 1807370
        }
      ],
      "hgvs": [
        "NC_000004.11:g.1807371C>G",
        "CM000666.1:g.1807371C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1777169,
          "referenceAllele": "C",
          "start": 1777168
        }
      ],
      "hgvs": [
        "NC_000004.10:g.1777169C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17333,
          "referenceAllele": "C",
          "start": 17332
        }
      ],
      "hgvs": [
        "NG_012632.1:g.17333C>G",
        "LRG_1021:g.17333C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.9:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Asn542Lys",
        "hgvsWellDefined": "ENSP00000339824.4:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.8:c.*676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.3:n.*676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.6:c.1284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Asn428Lys",
        "hgvsWellDefined": "ENSP00000231803.1:p.Asn428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.7:c.1608C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.3:p.Asn536Lys",
        "hgvsWellDefined": "ENSP00000412903.3:p.Asn536Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.8:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Asn540Lys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1620C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1620C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Asn540Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Asn540Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.7:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Asn541Lys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.6:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.2:p.Asn540Lys",
        "hgvsWellDefined": "ENSP00000260795.2:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.8:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Asn542Lys",
        "hgvsWellDefined": "ENSP00000339824.4:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.5:c.1284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Asn428Lys",
        "hgvsWellDefined": "ENSP00000231803.1:p.Asn428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.6:c.1284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.2:p.Asn428Lys",
        "hgvsWellDefined": "ENSP00000412903.2:p.Asn428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.6:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Asn540Lys",
        "hgvsWellDefined": "ENSP00000414914.2:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000469068.1:n.686C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.6:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Asn541Lys",
        "hgvsWellDefined": "ENSP00000420533.2:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000613647.4:c.*676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479472.1:n.*676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.4:c.1620C>G",
        "LRG_1021t1:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Asn540Lys",
        "hgvsWellDefined": "NP_000133.1:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.1:c.1626C>G",
        "LRG_1021t2:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Asn542Lys",
        "hgvsWellDefined": "NP_001156685.1:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004776",
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.3:c.1284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Asn428Lys",
        "hgvsWellDefined": "NP_075254.1:p.Asn428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713868.1:c.1632C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713931.1:p.Asn544Lys",
        "hgvsWellDefined": "XP_006713931.1:p.Asn544Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713869.1:c.1632C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713932.1:p.Asn544Lys",
        "hgvsWellDefined": "XP_006713932.1:p.Asn544Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "C",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713870.1:c.1629C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713933.1:p.Asn543Lys",
        "hgvsWellDefined": "XP_006713933.1:p.Asn543Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713871.1:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713934.1:p.Asn542Lys",
        "hgvsWellDefined": "XP_006713934.1:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713872.1:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713935.1:p.Asn541Lys",
        "hgvsWellDefined": "XP_006713935.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713873.1:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713936.1:p.Asn540Lys",
        "hgvsWellDefined": "XP_006713936.1:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513420.1:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511722.1:p.Asn542Lys",
        "hgvsWellDefined": "XP_011511722.1:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513422.1:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511724.1:p.Asn541Lys",
        "hgvsWellDefined": "XP_011511724.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937962",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.1:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Asn541Lys",
        "hgvsWellDefined": "NP_001341738.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938588",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.1:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Asn541Lys",
        "hgvsWellDefined": "NP_001341739.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.1:n.2027C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937962",
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "C",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.2:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Asn541Lys",
        "hgvsWellDefined": "NP_001341738.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938588",
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "C",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.2:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Asn541Lys",
        "hgvsWellDefined": "NP_001341739.1:p.Asn541Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.2046C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.1620C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Asn540Lys",
        "hgvsWellDefined": "NP_000133.1:p.Asn540Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.1620C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.1620C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Asn540Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Asn540Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA341411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.1626C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Asn542Lys",
        "hgvsWellDefined": "NP_001156685.1:p.Asn542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004776",
      "coordinates": [
        {
          "allele": "G",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.1284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Asn428Lys",
        "hgvsWellDefined": "NP_075254.1:p.Asn428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}