{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2026257646",
  "communityStandardTitle": [
    "NM_001370298.3(FGD4):c.1304T= (p.Met435=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63749871",
        "rs": 63749871
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32602217,
          "referenceAllele": "T",
          "start": 32602216
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32602217T=",
        "CM000674.2:g.32602217T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32755151,
          "referenceAllele": "T",
          "start": 32755150
        }
      ],
      "hgvs": [
        "NC_000012.11:g.32755151T=",
        "CM000674.1:g.32755151T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32646418,
          "referenceAllele": "T",
          "start": 32646417
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32646418T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207689,
          "referenceAllele": "T",
          "start": 207688
        }
      ],
      "hgvs": [
        "NG_008626.2:g.207689T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001133"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1442,
          "referenceAllele": "T",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000427716.7:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394487.2:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000531134.7:c.1148T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431323.1:p.Met383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000583694.2:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462623.2:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000682739.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507616.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "T",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000683182.1:c.-157T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507831.1:n.-157T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "T",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000683515.1:n.400T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000525053.6:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433666.2:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000531134.6:c.1148T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431323.1:p.Met383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000534526.7:c.1304T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449273.1:p.Met435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759401",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534526.7:c.1304T="
          },
          "RefSeq": {
            "hgvs": "NM_001370298.3:c.1304T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449273.1:p.Met435="
          },
          "RefSeq": {
            "hgvs": "NP_001357227.2:p.Met435="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000395740.5:c.*285T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379089.1:n.*285T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000427716.6:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394487.2:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "T",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000493087.5:c.*285T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437109.1:n.*285T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000494977.1:c.482T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000525053.5:c.1229T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433666.1:p.Met410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000531134.5:c.1148T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431323.1:p.Met383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "T",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000534526.6:c.1304T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449273.1:p.Met435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "T",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000546442.5:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446695.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "T",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "ENST00000551984.5:c.*262T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449614.1:n.*262T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304480.1:c.1229T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291409.1:p.Met410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304481.1:c.1148T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291410.1:p.Met383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "T",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304483.1:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291412.1:p.Met50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "T",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304484.1:c.-159T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291413.1:n.-159T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_139241.3:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "NP_640334.2:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "T",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253304.3:c.1385T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253361.1:p.Met462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253307.2:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253364.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253308.3:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253365.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "T",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253309.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253366.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "T",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253310.3:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253367.1:p.Met50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520554.1:c.1187T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518856.1:p.Met396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520555.1:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518857.1:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "T",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520556.1:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518858.1:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520557.1:c.341T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518859.1:p.Met114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "T",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520558.1:c.296T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518860.1:p.Met99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "T",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520559.1:c.128T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518861.1:p.Met43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "T",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330373.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317302.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330374.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317303.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "T",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253304.4:c.1385T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253361.1:p.Met462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "T",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253308.5:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253365.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_005253310.4:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253367.1:p.Met50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520558.2:c.296T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518860.1:p.Met99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520559.3:c.128T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518861.1:p.Met43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "T",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_017018803.1:c.1385T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874292.1:p.Met462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "T",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_017018805.1:c.341T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874294.1:p.Met114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "T",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_024448837.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304605.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_024448838.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304606.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_024448839.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304607.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "T",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_024448840.1:c.2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304608.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "T",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XR_001748576.1:n.1575T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001370297.1:c.341T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357226.1:p.Met114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001370298.1:c.1385T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357227.1:p.Met462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "T",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304483.2:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291412.1:p.Met50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "T",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304484.2:c.-159T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291413.1:n.-159T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "T",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330373.2:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317302.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330374.2:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317303.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280811",
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001370298.3:c.1304T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357227.2:p.Met435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721168",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534526.7:c.1304T="
          },
          "RefSeq": {
            "hgvs": "NM_001370298.3:c.1304T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449273.1:p.Met435="
          },
          "RefSeq": {
            "hgvs": "NP_001357227.2:p.Met435="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384126.1:c.1304T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371055.1:p.Met435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384127.1:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371056.1:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "T",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384128.1:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371057.1:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "T",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384130.1:c.614T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371059.1:p.Met205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "T",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001385118.1:c.893T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372047.1:p.Met298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723475"
    }
  ],
  "type": "nucleotide"
}