{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1884288219",
  "communityStandardTitle": [
    "NM_016219.5(MAN1B1):c.328+233C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3750518",
        "rs": 3750518
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 137088416,
          "referenceAllele": "C",
          "start": 137088415
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137088416C=",
        "CM000671.2:g.137088416C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139982868,
          "referenceAllele": "C",
          "start": 139982867
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139982868C=",
        "CM000671.1:g.139982868C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139102689,
          "referenceAllele": "C",
          "start": 139102688
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139102689C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6490,
          "referenceAllele": "C",
          "start": 6489
        }
      ],
      "hgvs": [
        "NG_031978.1:g.6490C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 523,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000371587.9:c.*30+18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483132.2:n.*30+18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000475449.7:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448658.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000535144.6:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441398.3:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000542372.2:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444189.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000544448.6:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444966.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 488,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000545539.6:c.*233+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440314.2:n.*233+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000682117.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507328.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000682210.1:n.352+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000682212.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508217.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 578,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000682425.1:n.578+18C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000682881.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506762.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683135.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507130.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 458,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683324.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507373.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 365,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683355.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508045.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683475.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507749.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683979.1:c.*30+18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507362.1:n.*30+18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000683987.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507715.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684138.1:c.*30+18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506755.1:n.*30+18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684144.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508213.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 371,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684229.1:n.371+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 488,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684272.1:c.*233+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506776.1:n.*233+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684297.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507160.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684366.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507668.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684645.1:n.348+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000684759.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507818.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000371589.9:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360645.4:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371589.9:c.328+233C="
          },
          "RefSeq": {
            "hgvs": "NM_016219.5:c.328+233C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360645.4:n.328+233C="
          },
          "RefSeq": {
            "hgvs": "NP_057303.2:n.328+233C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000371587.8:c.378+18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483132.1:n.378+18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000371589.8:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360645.4:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000535144.5:c.220+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441398.2:n.220+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000540346.2:n.318+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 245,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 245,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000542372.1:c.245+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000544448.5:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444966.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000545096.1:n.477C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "ENST00000545539.5:c.392+233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440314.1:n.392+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NM_016219.4:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057303.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NR_045720.1:n.401+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NR_045721.1:n.532+18C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "XM_006716945.2:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717008.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "XM_006716945.4:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717008.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "XM_017014239.1:c.31+18C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869728.1:n.31+18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "XM_024447403.1:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303171.1:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "XR_001746176.1:n.518+18C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NM_016219.5:c.328+233C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057303.2:n.328+233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371589.9:c.328+233C="
          },
          "RefSeq": {
            "hgvs": "NM_016219.5:c.328+233C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360645.4:n.328+233C="
          },
          "RefSeq": {
            "hgvs": "NP_057303.2:n.328+233C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NR_045720.2:n.343+233C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006823",
      "geneNCBI_id": 11253,
      "geneSymbol": "MAN1B1",
      "hgvs": [
        "NR_045721.2:n.474+18C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702399"
    }
  ],
  "type": "nucleotide"
}