{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257309",
  "communityStandardTitle": [
    "NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29781[alleleid]",
        "alleleId": 29781,
        "preferredName": "NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14742",
        "RCV": [
          "RCV000015863",
          "RCV000359496"
        ],
        "variationId": 14742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73748302-C-T",
        "id": "17-73748302-C-T",
        "variant": "17:73748302 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73748302C>T?assembly=hg19",
        "id": "chr17:g.73748302C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75752221C>T?assembly=hg38",
        "id": "chr17:g.75752221C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912467",
        "rs": 121912467
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73748302-C-T?dataset=gnomad_r2_1",
        "id": "17-73748302-C-T",
        "variant": "17:73748302 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75752221-C-T?dataset=gnomad_r4",
        "id": "17-75752221-C-T",
        "variant": "17:75752221 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75752221,
          "referenceAllele": "C",
          "start": 75752220
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75752221C>T",
        "CM000679.2:g.75752221C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73748302,
          "referenceAllele": "C",
          "start": 73748301
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73748302C>T",
        "CM000679.1:g.73748302C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71259897,
          "referenceAllele": "C",
          "start": 71259896
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71259897C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35787,
          "referenceAllele": "C",
          "start": 35786
        }
      ],
      "hgvs": [
        "NG_007372.1:g.35787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17979,
          "referenceAllele": "G",
          "start": 17978
        }
      ],
      "hgvs": [
        "NG_008079.2:g.17979G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.7:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000400217.2:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.8:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000200181.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.3841C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.3841C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Arg1281Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Arg1281Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.7:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000200181.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "G",
          "start": 1301,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000225614.6:c.*23-484G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225614.1:n.*23-484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.6:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000400217.2:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000450894.7:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405536.3:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000405536.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000579662.5:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463651.1:p.Arg1281Trp",
        "hgvsWellDefined": "ENSP00000463651.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "endIntronDirection": "-",
          "endIntronOffset": 5404,
          "referenceAllele": "C",
          "start": 265,
          "startIntronDirection": "-",
          "startIntronOffset": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000582629.1:c.266-5405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463788.1:n.266-5405C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "C",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000583327.2:n.84C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000589643.1:n.255-484G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109720",
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.3:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Arg1281Trp",
        "hgvsWellDefined": "NP_000204.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275283",
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005619.1:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005619.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001005619.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825276144",
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.1:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001005731.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3906,
          "referenceAllele": "C",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257309.2:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257366.1:p.Arg1281Trp",
        "hgvsWellDefined": "XP_005257366.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4122,
          "referenceAllele": "C",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.3:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Arg1281Trp",
        "hgvsWellDefined": "XP_005257368.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3906,
          "referenceAllele": "C",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257312.2:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257369.1:p.Arg1281Trp",
        "hgvsWellDefined": "XP_005257369.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.2:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721929.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4025,
          "referenceAllele": "C",
          "start": 4024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.2:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721930.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4022,
          "referenceAllele": "C",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.2:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721931.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4019,
          "referenceAllele": "C",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.2:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721933.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4026,
          "referenceAllele": "C",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.1:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_011523053.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524752.1:c.1786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523054.1:p.Arg596Trp",
        "hgvsWellDefined": "XP_011523054.1:p.Arg596Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109720",
      "coordinates": [
        {
          "allele": "T",
          "end": 4136,
          "referenceAllele": "C",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.4:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Arg1281Trp",
        "hgvsWellDefined": "NP_000204.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825276144",
      "coordinates": [
        {
          "allele": "T",
          "end": 4136,
          "referenceAllele": "C",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.2:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001005731.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024848",
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.1:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001308052.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4125,
          "referenceAllele": "C",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.4:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Arg1281Trp",
        "hgvsWellDefined": "XP_005257368.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.3:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721929.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4049,
          "referenceAllele": "C",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.3:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721930.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4046,
          "referenceAllele": "C",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.3:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721931.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4042,
          "referenceAllele": "C",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.3:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_006721933.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4050,
          "referenceAllele": "C",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.2:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Arg1316Trp",
        "hgvsWellDefined": "XP_011523053.1:p.Arg1316Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524752.2:c.1786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523054.1:p.Arg596Trp",
        "hgvsWellDefined": "XP_011523054.1:p.Arg596Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109720",
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.5:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Arg1281Trp",
        "hgvsWellDefined": "NP_000204.3:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.3841C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.3841C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Arg1281Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Arg1281Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825276144",
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.3:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001005731.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024848",
      "coordinates": [
        {
          "allele": "T",
          "end": 3956,
          "referenceAllele": "C",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.2:c.3841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Arg1281Trp",
        "hgvsWellDefined": "NP_001308052.1:p.Arg1281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "G",
          "start": 1257,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.*23-484G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:n.*23-484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}