{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381185855",
  "communityStandardTitle": [
    "NM_001370259.2(MEN1):c.542A>G (p.His181Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838738[alleleid]",
        "alleleId": 838738,
        "preferredName": "NM_001370259.2(MEN1):c.542A>G (p.His181Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/862323",
        "RCV": [
          "RCV001069023",
          "RCV001574143",
          "RCV002348477"
        ],
        "variationId": 862323
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.64575475T>C?assembly=hg19",
        "id": "chr11:g.64575475T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.64808003T>C?assembly=hg38",
        "id": "chr11:g.64808003T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1941861451",
        "rs": 1941861451
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-64808003-T-C?dataset=gnomad_r4",
        "id": "11-64808003-T-C",
        "variant": "11:64808003 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 64808003,
          "referenceAllele": "T",
          "start": 64808002
        }
      ],
      "hgvs": [
        "NC_000011.10:g.64808003T>C",
        "CM000673.2:g.64808003T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 64575475,
          "referenceAllele": "T",
          "start": 64575474
        }
      ],
      "hgvs": [
        "NC_000011.9:g.64575475T>C",
        "CM000673.1:g.64575475T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 64332051,
          "referenceAllele": "T",
          "start": 64332050
        }
      ],
      "hgvs": [
        "NC_000011.8:g.64332051T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8292,
          "referenceAllele": "A",
          "start": 8291
        }
      ],
      "hgvs": [
        "NG_008929.1:g.8292A>G",
        "LRG_509:g.8292A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "hgvs": [
        "NG_033040.1:g.239A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "A",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.7:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000366530.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.8:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377899.4:p.His181Arg",
        "hgvsWellDefined": "ENSP00000377899.4:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394376.7:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377901.3:p.His181Arg",
        "hgvsWellDefined": "ENSP00000377901.3:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000413626.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411218.2:p.His181Arg",
        "hgvsWellDefined": "ENSP00000411218.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000424912.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388016.2:p.His181Arg",
        "hgvsWellDefined": "ENSP00000388016.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000429702.6:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402752.2:p.His181Arg",
        "hgvsWellDefined": "ENSP00000402752.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672079.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500905.2:p.His181Arg",
        "hgvsWellDefined": "ENSP00000500905.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000710881.1:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518530.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000518530.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.7:c.303A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "A",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000478548.3:n.574A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "referenceAllele": "A",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671939.2:n.294A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671965.2:n.202A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000312049.11:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308975.6:p.His181Arg",
        "hgvsWellDefined": "ENSP00000308975.6:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000315422.9:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323747.4:p.His181Arg",
        "hgvsWellDefined": "ENSP00000323747.4:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.6:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000366530.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "A",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000440873.6:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413944.2:p.His181Arg",
        "hgvsWellDefined": "ENSP00000413944.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000450708.7:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394933.3:p.His181Arg",
        "hgvsWellDefined": "ENSP00000394933.3:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450708.7:c.542A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370259.2:c.542A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394933.3:p.His181Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001357188.2:p.His181Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000478548.2:n.582A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671939.1:n.609A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000671965.1:n.202A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672079.1:c.268A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000672304.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500585.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000500585.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000312049.10:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308975.6:p.His181Arg",
        "hgvsWellDefined": "ENSP00000308975.6:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000315422.8:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323747.4:p.His181Arg",
        "hgvsWellDefined": "ENSP00000323747.4:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "A",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000337652.5:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337088.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000337088.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377313.5:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366530.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000366530.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377316.6:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366533.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000366533.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "A",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377321.5:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366538.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000366538.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1041,
          "referenceAllele": "A",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000377326.7:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366543.3:p.His181Arg",
        "hgvsWellDefined": "ENSP00000366543.3:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394374.6:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377899.2:p.His186Arg",
        "hgvsWellDefined": "ENSP00000377899.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000394376.5:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377901.1:p.His186Arg",
        "hgvsWellDefined": "ENSP00000377901.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "A",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000413626.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411218.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000411218.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "A",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000440873.5:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413944.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000413944.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "A",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "ENST00000450708.5:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394933.1:p.His181Arg",
        "hgvsWellDefined": "ENSP00000394933.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "referenceAllele": "A",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_000244.3:c.557A>G",
        "LRG_509t1:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000235.2:p.His186Arg",
        "hgvsWellDefined": "NP_000235.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130799.2:c.542A>G",
        "LRG_509t2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570711.1:p.His181Arg",
        "hgvsWellDefined": "NP_570711.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130800.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570712.1:p.His186Arg",
        "hgvsWellDefined": "NP_570712.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130801.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570713.1:p.His186Arg",
        "hgvsWellDefined": "NP_570713.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130802.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570714.1:p.His186Arg",
        "hgvsWellDefined": "NP_570714.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "A",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130803.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570715.1:p.His186Arg",
        "hgvsWellDefined": "NP_570715.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139750296",
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130804.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570716.1:p.His186Arg",
        "hgvsWellDefined": "NP_570716.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_005274001.3:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274058.1:p.His181Arg",
        "hgvsWellDefined": "XP_005274058.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545040.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543342.1:p.His181Arg",
        "hgvsWellDefined": "XP_011543342.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545041.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543343.1:p.His181Arg",
        "hgvsWellDefined": "XP_011543343.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545042.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543344.1:p.His181Arg",
        "hgvsWellDefined": "XP_011543344.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_005274001.4:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274058.1:p.His181Arg",
        "hgvsWellDefined": "XP_005274058.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "A",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545041.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543343.1:p.His181Arg",
        "hgvsWellDefined": "XP_011543343.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_011545042.3:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543344.1:p.His181Arg",
        "hgvsWellDefined": "XP_011543344.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017765.1:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873254.1:p.His186Arg",
        "hgvsWellDefined": "XP_016873254.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017766.1:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873255.1:p.His186Arg",
        "hgvsWellDefined": "XP_016873255.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017767.2:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873256.1:p.His186Arg",
        "hgvsWellDefined": "XP_016873256.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017768.1:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873257.1:p.His186Arg",
        "hgvsWellDefined": "XP_016873257.1:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "A",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017769.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873258.1:p.His181Arg",
        "hgvsWellDefined": "XP_016873258.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "XM_017017770.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873259.1:p.His181Arg",
        "hgvsWellDefined": "XP_016873259.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370251.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357180.1:p.His181Arg",
        "hgvsWellDefined": "NP_001357180.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828396133",
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370259.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357188.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357188.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692269",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450708.7:c.542A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370259.2:c.542A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394933.3:p.His181Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001357188.2:p.His181Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370260.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357189.1:p.His181Arg",
        "hgvsWellDefined": "NP_001357189.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370261.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357190.1:p.His181Arg",
        "hgvsWellDefined": "NP_001357190.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370262.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357191.1:p.His181Arg",
        "hgvsWellDefined": "NP_001357191.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370263.1:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357192.1:p.His181Arg",
        "hgvsWellDefined": "NP_001357192.1:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825100531",
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_000244.4:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000235.3:p.His186Arg",
        "hgvsWellDefined": "NP_000235.3:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828394625",
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370251.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357180.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357180.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781994"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828397782",
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370260.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357189.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357189.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828399435",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370261.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357190.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357190.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828401087",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370262.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357191.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357191.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828402648",
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_001370263.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357192.2:p.His181Arg",
        "hgvsWellDefined": "NP_001357192.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830170784",
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130799.3:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570711.2:p.His181Arg",
        "hgvsWellDefined": "NP_570711.2:p.His181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830172444",
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130800.3:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570712.2:p.His186Arg",
        "hgvsWellDefined": "NP_570712.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830174104",
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130801.3:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570713.2:p.His186Arg",
        "hgvsWellDefined": "NP_570713.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830175763",
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "A",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130802.3:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570714.2:p.His186Arg",
        "hgvsWellDefined": "NP_570714.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830177423",
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "A",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130803.3:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570715.2:p.His186Arg",
        "hgvsWellDefined": "NP_570715.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573297281",
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007010",
      "geneNCBI_id": 4221,
      "geneSymbol": "MEN1",
      "hgvs": [
        "NM_130804.3:c.557A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570716.2:p.His186Arg",
        "hgvsWellDefined": "NP_570716.2:p.His186Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784289"
    }
  ],
  "type": "nucleotide"
}