{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381180218",
  "communityStandardTitle": [
    "NM_001370259.2(MEN1):c.1308G>C (p.Trp436Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.64572548C>G?assembly=hg19",
        "id": "chr11:g.64572548C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.64805076C>G?assembly=hg38",
        "id": "chr11:g.64805076C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 64805076,
          "referenceAllele": "C",
          "start": 64805075
        }
      ],
      "hgvs": [
        "NC_000011.10:g.64805076C>G",
        "CM000673.2:g.64805076C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 64572548,
          "referenceAllele": "C",
          "start": 64572547
        }
      ],
      "hgvs": [
        "NC_000011.9:g.64572548C>G",
        "CM000673.1:g.64572548C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 64329124,
          "referenceAllele": "C",
          "start": 64329123
        }
      ],
      "hgvs": [
        "NC_000011.8:g.64329124C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11219,
          "referenceAllele": "G",
          "start": 11218
        }
      ],
      "hgvs": [
        "NG_008929.1:g.11219G>C",
        "LRG_509:g.11219G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3166,
          "referenceAllele": "G",
          "start": 3165
        }
      ],
      "hgvs": [
        "NG_033040.1:g.3166G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.7:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000366530.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1355,
          "referenceAllele": "G",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.8:c.*616G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377899.4:n.*616G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394376.7:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377901.3:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000377901.3:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000413626.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411218.2:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000411218.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000424912.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388016.2:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000388016.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000429702.6:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402752.2:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000402752.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672079.2:c.*404G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500905.2:n.*404G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000710881.1:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518530.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000518530.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.7:c.1055G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394376.6:c.659G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000478548.3:n.1801G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671939.2:n.1270G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671965.2:n.1690G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000312049.11:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308975.6:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000308975.6:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000315422.9:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323747.4:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000323747.4:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.6:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000366530.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000440873.6:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413944.2:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000413944.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000450708.7:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394933.3:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000394933.3:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450708.7:c.1308G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001370259.2:c.1308G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394933.3:p.Trp436Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001357188.2:p.Trp436Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1809,
          "referenceAllele": "G",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000478548.2:n.1809G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671939.1:n.1585G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672079.1:c.1183G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672304.1:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500585.1:p.Trp478Cys",
        "hgvsWellDefined": "ENSP00000500585.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "G",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000312049.10:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308975.6:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000308975.6:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000315422.8:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323747.4:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000323747.4:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000337652.5:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337088.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000337088.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.5:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000366530.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1561,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "G",
          "start": 1561,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377316.6:c.1186-260G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366533.1:n.1186-260G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377321.5:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366538.1:p.Trp401Cys",
        "hgvsWellDefined": "ENSP00000366538.1:p.Trp401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1807,
          "referenceAllele": "G",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377326.7:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366543.3:p.Trp436Cys",
        "hgvsWellDefined": "ENSP00000366543.3:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.6:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377899.2:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000377899.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394376.5:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377901.1:p.Trp441Cys",
        "hgvsWellDefined": "ENSP00000377901.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000478548.1:n.857G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285767",
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_000244.3:c.1323G>C",
        "LRG_509t1:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000235.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_000235.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285766",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "G",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130799.2:c.1308G>C",
        "LRG_509t2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570711.1:p.Trp436Cys",
        "hgvsWellDefined": "NP_570711.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130800.2:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570712.1:p.Trp441Cys",
        "hgvsWellDefined": "NP_570712.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1384,
          "referenceAllele": "G",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130801.2:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570713.1:p.Trp441Cys",
        "hgvsWellDefined": "NP_570713.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130802.2:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570714.1:p.Trp441Cys",
        "hgvsWellDefined": "NP_570714.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130803.2:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570715.1:p.Trp441Cys",
        "hgvsWellDefined": "NP_570715.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130804.2:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570716.1:p.Trp441Cys",
        "hgvsWellDefined": "NP_570716.1:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_005274001.3:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274058.1:p.Trp436Cys",
        "hgvsWellDefined": "XP_005274058.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545040.1:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543342.1:p.Trp478Cys",
        "hgvsWellDefined": "XP_011543342.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545041.1:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543343.1:p.Trp478Cys",
        "hgvsWellDefined": "XP_011543343.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545042.1:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543344.1:p.Trp478Cys",
        "hgvsWellDefined": "XP_011543344.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_005274001.4:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274058.1:p.Trp436Cys",
        "hgvsWellDefined": "XP_005274058.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545041.2:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543343.1:p.Trp478Cys",
        "hgvsWellDefined": "XP_011543343.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545042.3:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543344.1:p.Trp478Cys",
        "hgvsWellDefined": "XP_011543344.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017765.1:c.1449G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873254.1:p.Trp483Cys",
        "hgvsWellDefined": "XP_016873254.1:p.Trp483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "G",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017766.1:c.1449G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873255.1:p.Trp483Cys",
        "hgvsWellDefined": "XP_016873255.1:p.Trp483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017767.2:c.1449G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873256.1:p.Trp483Cys",
        "hgvsWellDefined": "XP_016873256.1:p.Trp483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "G",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017768.1:c.1449G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873257.1:p.Trp483Cys",
        "hgvsWellDefined": "XP_016873257.1:p.Trp483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017769.1:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873258.1:p.Trp436Cys",
        "hgvsWellDefined": "XP_016873258.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017770.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873259.1:p.Trp436Cys",
        "hgvsWellDefined": "XP_016873259.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048231",
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370251.1:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357180.1:p.Trp478Cys",
        "hgvsWellDefined": "NP_001357180.1:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828396776",
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370259.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357188.2:p.Trp436Cys",
        "hgvsWellDefined": "NP_001357188.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692269",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450708.7:c.1308G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001370259.2:c.1308G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394933.3:p.Trp436Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001357188.2:p.Trp436Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370260.1:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357189.1:p.Trp436Cys",
        "hgvsWellDefined": "NP_001357189.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370261.1:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357190.1:p.Trp436Cys",
        "hgvsWellDefined": "NP_001357190.1:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370262.1:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357191.1:p.Trp401Cys",
        "hgvsWellDefined": "NP_001357191.1:p.Trp401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370263.1:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357192.1:p.Trp401Cys",
        "hgvsWellDefined": "NP_001357192.1:p.Trp401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825101174",
      "coordinates": [
        {
          "allele": "C",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_000244.4:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000235.3:p.Trp441Cys",
        "hgvsWellDefined": "NP_000235.3:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573212357",
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370251.2:c.1434G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357180.2:p.Trp478Cys",
        "hgvsWellDefined": "NP_001357180.2:p.Trp478Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781994"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828398426",
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370260.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357189.2:p.Trp436Cys",
        "hgvsWellDefined": "NP_001357189.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828400078",
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370261.2:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357190.2:p.Trp436Cys",
        "hgvsWellDefined": "NP_001357190.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828401638",
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370262.2:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357191.2:p.Trp401Cys",
        "hgvsWellDefined": "NP_001357191.2:p.Trp401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828403200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370263.2:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357192.2:p.Trp401Cys",
        "hgvsWellDefined": "NP_001357192.2:p.Trp401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830171427",
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130799.3:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570711.2:p.Trp436Cys",
        "hgvsWellDefined": "NP_570711.2:p.Trp436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830173087",
      "coordinates": [
        {
          "allele": "C",
          "end": 1384,
          "referenceAllele": "G",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130800.3:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570712.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_570712.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830174746",
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130801.3:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570713.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_570713.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830176406",
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130802.3:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570714.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_570714.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830178067",
      "coordinates": [
        {
          "allele": "C",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130803.3:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570715.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_570715.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830179021",
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130804.3:c.1323G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570716.2:p.Trp441Cys",
        "hgvsWellDefined": "NP_570716.2:p.Trp441Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784289"
    }
  ],
  "type": "nucleotide"
}