{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2133613677",
  "communityStandardTitle": [
    "NM_020937.4(FANCM):c.1249G= (p.Glu417=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141729590",
        "rs": 141729590
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 45154762,
          "referenceAllele": "G",
          "start": 45154761
        }
      ],
      "hgvs": [
        "NC_000014.9:g.45154762G=",
        "CM000676.2:g.45154762G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 45623965,
          "referenceAllele": "G",
          "start": 45623964
        }
      ],
      "hgvs": [
        "NC_000014.8:g.45623965G=",
        "CM000676.1:g.45623965G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 44693715,
          "referenceAllele": "G",
          "start": 44693714
        }
      ],
      "hgvs": [
        "NC_000014.7:g.44693715G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23830,
          "referenceAllele": "G",
          "start": 23829
        }
      ],
      "hgvs": [
        "NG_007417.1:g.23830G=",
        "LRG_502:g.23830G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556036.6:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450596.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.6:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.2:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696641.1:c.1090G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512774.1:p.Glu364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696642.1:c.*60G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512775.1:n.*60G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696643.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512776.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696646.1:c.*60G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512777.1:n.*60G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1328,
          "referenceAllele": "G",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696647.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512778.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696648.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512779.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696649.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512780.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696650.1:n.1197G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "G",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696657.1:c.*467G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512784.1:n.*467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696658.1:n.1799G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696662.1:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512788.1:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696663.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696664.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696675.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512799.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696680.1:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512803.1:p.Glu373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696681.1:c.*60G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512804.1:n.*60G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696682.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512805.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696683.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696684.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696685.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.10:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.1249G="
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.1249G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Glu417="
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Glu417="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.9:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000542564.6:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442493.2:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556036.5:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450596.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4,
          "referenceAllele": "G",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.5:c.4G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.1:p.Glu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372072"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826924859",
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.1:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826926735",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308134.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295063.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940645",
      "coordinates": [
        {
          "allele": "G",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.2:c.1249G=",
        "LRG_502t1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940645",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.3:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.1:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537036.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535338.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.2:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.3:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021523.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877012.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021524.2:c.286G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877013.1:p.Glu96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021525.2:c.64G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877014.1:p.Glu22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021526.2:c.64G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877015.1:p.Glu22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021527.1:c.64G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877016.1:p.Glu22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750470.1:n.1341G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750471.2:n.1341G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750472.1:n.1341G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940645",
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.4:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.1249G="
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.1249G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Glu417="
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Glu417="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826924859",
      "coordinates": [
        {
          "allele": "G",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.2:c.1171G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Glu391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826926735",
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308134.2:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295063.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717231"
    }
  ],
  "type": "nucleotide"
}