{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2133607202",
  "communityStandardTitle": [
    "NM_020937.4(FANCM):c.1491A= (p.Ser497=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752389542",
        "rs": 752389542
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045116",
        "rs": 797045116
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 45159190,
          "referenceAllele": "A",
          "start": 45159189
        }
      ],
      "hgvs": [
        "NC_000014.9:g.45159190A=",
        "CM000676.2:g.45159190A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 45628393,
          "referenceAllele": "A",
          "start": 45628392
        }
      ],
      "hgvs": [
        "NC_000014.8:g.45628393A=",
        "CM000676.1:g.45628393A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 44698143,
          "referenceAllele": "A",
          "start": 44698142
        }
      ],
      "hgvs": [
        "NC_000014.7:g.44698143A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28258,
          "referenceAllele": "A",
          "start": 28257
        }
      ],
      "hgvs": [
        "NG_007417.1:g.28258A=",
        "LRG_502:g.28258A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556036.6:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450596.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.6:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.2:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "A",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696641.1:c.1332A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512774.1:p.Ser444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696642.1:c.*302A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512775.1:n.*302A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696643.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512776.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696646.1:c.*302A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512777.1:n.*302A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696647.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512778.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "A",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696648.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512779.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "A",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696649.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512780.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696650.1:n.1439A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2041,
          "referenceAllele": "A",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696658.1:n.2041A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696662.1:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512788.1:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696663.1:c.308A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696664.1:c.308A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "A",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696675.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512799.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "A",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696680.1:c.1359A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512803.1:p.Ser453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696681.1:c.*302A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512804.1:n.*302A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "A",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696682.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512805.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696683.1:c.308A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696684.1:c.308A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696685.1:c.308A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.10:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.1491A="
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.1491A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Ser497="
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Ser497="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.9:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "A",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000542564.6:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442493.2:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556036.5:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450596.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.5:c.246A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.1:p.Ser82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "A",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.1:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "A",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308134.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295063.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081236189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "referenceAllele": "A",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.2:c.1491A=",
        "LRG_502t1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081236189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "A",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.3:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.1:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537036.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535338.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.2:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.3:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021523.1:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877012.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021524.2:c.528A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877013.1:p.Ser176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021525.2:c.306A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877014.1:p.Ser102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021526.2:c.306A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877015.1:p.Ser102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021527.1:c.306A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877016.1:p.Ser102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750470.1:n.1583A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750471.2:n.1583A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750472.1:n.1583A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081236189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.4:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.1491A="
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.1491A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Ser497="
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Ser497="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.2:c.1413A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Ser471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308134.2:c.1491A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295063.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717231"
    }
  ],
  "type": "nucleotide"
}