{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355719199",
  "communityStandardTitle": [
    "NM_014375.3(FETUB):c.401C>T (p.Ala134Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2236141[alleleid]",
        "alleleId": 2236141,
        "preferredName": "NM_014375.3(FETUB):c.401C>T (p.Ala134Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2254070",
        "RCV": [
          "RCV004114285"
        ],
        "variationId": 2254070
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.186360324C>T?assembly=hg19",
        "id": "chr3:g.186360324C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.186642535C>T?assembly=hg38",
        "id": "chr3:g.186642535C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1579036306",
        "rs": 1579036306
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 186642535,
          "referenceAllele": "C",
          "start": 186642534
        }
      ],
      "hgvs": [
        "NC_000003.12:g.186642535C>T",
        "CM000665.2:g.186642535C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 186360324,
          "referenceAllele": "C",
          "start": 186360323
        }
      ],
      "hgvs": [
        "NC_000003.11:g.186360324C>T",
        "CM000665.1:g.186360324C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 187843018,
          "referenceAllele": "C",
          "start": 187843017
        }
      ],
      "hgvs": [
        "NC_000003.10:g.187843018C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000265029.8:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265029.3:p.Ala134Val",
        "hgvsWellDefined": "ENSP00000265029.3:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265029.8:c.401C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014375.3:c.401C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265029.3:p.Ala134Val"
          },
          "RefSeq": {
            "hgvs": "NP_055190.2:p.Ala134Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000265029.7:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265029.3:p.Ala134Val",
        "hgvsWellDefined": "ENSP00000265029.3:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 1846,
          "referenceAllele": "C",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000382134.7:c.229+1846C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371569.3:n.229+1846C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000382136.3:c.290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371571.3:p.Ala97Val",
        "hgvsWellDefined": "ENSP00000371571.3:p.Ala97Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000420570.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405438.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 2215,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000431018.5:c.-20-2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396581.1:n.-20-2216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000435961.5:c.336+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393851.1:n.336+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000450521.5:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404288.1:p.Ala134Val",
        "hgvsWellDefined": "ENSP00000404288.1:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "endIntronDirection": "+",
          "endIntronOffset": 1850,
          "referenceAllele": "C",
          "start": 245,
          "startIntronDirection": "+",
          "startIntronOffset": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "ENST00000488561.1:n.245+1850C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195058",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001308077.1:c.290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295006.1:p.Ala97Val",
        "hgvsWellDefined": "NP_001295006.1:p.Ala97Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 1846,
          "referenceAllele": "C",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001308079.1:c.229+1846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295008.1:n.229+1846C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829734747",
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_014375.2:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055190.2:p.Ala134Val",
        "hgvsWellDefined": "NP_055190.2:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_005247351.2:c.-21+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247408.1:n.-21+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512681.1:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510983.1:p.Ala134Val",
        "hgvsWellDefined": "XP_011510983.1:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512682.1:c.86C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510984.1:p.Ala29Val",
        "hgvsWellDefined": "XP_011510984.1:p.Ala29Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "endIntronDirection": "-",
          "endIntronOffset": 2215,
          "referenceAllele": "C",
          "start": 392,
          "startIntronDirection": "-",
          "startIntronOffset": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512683.1:c.-20-2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510985.1:n.-20-2216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "endIntronDirection": "+",
          "endIntronOffset": 1850,
          "referenceAllele": "C",
          "start": 79,
          "startIntronDirection": "+",
          "startIntronOffset": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512684.1:c.-21+1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510986.1:n.-21+1850C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924799.1:n.784-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 718,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924800.1:n.719-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924801.1:n.573-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 240,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924802.1:n.784-241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 655,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924803.1:n.656-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924804.1:n.427-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924805.1:n.241-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924806.1:n.125-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 470,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_005247351.3:c.-21+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247408.1:n.-21+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512681.2:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510983.1:p.Ala134Val",
        "hgvsWellDefined": "XP_011510983.1:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512682.2:c.86C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510984.1:p.Ala29Val",
        "hgvsWellDefined": "XP_011510984.1:p.Ala29Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 2215,
          "referenceAllele": "C",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_011512683.2:c.-20-2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510985.1:n.-20-2216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "XM_024453452.1:c.-21+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309220.1:n.-21+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "-",
          "endIntronOffset": 240,
          "referenceAllele": "G",
          "start": 719,
          "startIntronDirection": "-",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_001741058.1:n.720-241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 240,
          "referenceAllele": "G",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_001741059.1:n.574-241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924801.2:n.574-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 406,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055915",
      "geneNCBI_id": 105374258,
      "geneSymbol": "HRG-AS1",
      "hgvs": [
        "XR_924804.2:n.437-407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195058",
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001308077.4:c.290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295006.1:p.Ala97Val",
        "hgvsWellDefined": "NP_001295006.1:p.Ala97Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 1846,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001308079.4:c.229+1846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295008.1:n.229+1846C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828620004",
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375587.2:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362516.1:p.Ala134Val",
        "hgvsWellDefined": "NP_001362516.1:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828620022",
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375588.2:c.86C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362517.1:p.Ala29Val",
        "hgvsWellDefined": "NP_001362517.1:p.Ala29Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 2215,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375589.2:c.-20-2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362518.1:n.-20-2216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375590.2:c.-21+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362519.1:n.-21+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 1395,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375591.2:c.-21+1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362520.1:n.-21+1395C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 1850,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_001375592.2:c.-21+1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362521.1:n.-21+1850C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829734747",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003658",
      "geneNCBI_id": 26998,
      "geneSymbol": "FETUB",
      "hgvs": [
        "NM_014375.3:c.401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055190.2:p.Ala134Val",
        "hgvsWellDefined": "NP_055190.2:p.Ala134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265029.8:c.401C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014375.3:c.401C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265029.3:p.Ala134Val"
          },
          "RefSeq": {
            "hgvs": "NP_055190.2:p.Ala134Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}