{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7480924",
  "communityStandardTitle": [
    "NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445310[alleleid]",
        "alleleId": 445310,
        "preferredName": "NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450659",
        "RCV": [
          "RCV000523707",
          "RCV000674039",
          "RCV002271521",
          "RCV003392352"
        ],
        "variationId": 450659
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-40710422-G-A",
        "id": "15-40710422-G-A",
        "variant": "15:40710422 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40710422G>A?assembly=hg19",
        "id": "chr15:g.40710422G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40418223G>A?assembly=hg38",
        "id": "chr15:g.40418223G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143348838",
        "rs": 143348838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40710422-G-A?dataset=gnomad_r2_1",
        "id": "15-40710422-G-A",
        "variant": "15:40710422 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40418223-G-A?dataset=gnomad_r3",
        "id": "15-40418223-G-A",
        "variant": "15:40418223 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40418223-G-A?dataset=gnomad_r4",
        "id": "15-40418223-G-A",
        "variant": "15:40418223 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40418223,
          "referenceAllele": "G",
          "start": 40418222
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40418223G>A",
        "CM000677.2:g.40418223G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40710422,
          "referenceAllele": "G",
          "start": 40710421
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40710422G>A",
        "CM000677.1:g.40710422G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 38497714,
          "referenceAllele": "G",
          "start": 38497713
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38497714G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17737,
          "referenceAllele": "G",
          "start": 17736
        }
      ],
      "hgvs": [
        "NG_011986.1:g.17737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17739,
          "referenceAllele": "G",
          "start": 17738
        }
      ],
      "hgvs": [
        "NG_011986.2:g.17739G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.7:c.1142G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.3:p.Arg381Gln",
        "hgvsWellDefined": "ENSP00000417990.3:p.Arg381Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.8:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.3:p.Arg411Gln",
        "hgvsWellDefined": "ENSP00000418397.3:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Arg411Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Arg411Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000650656.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498731.1:p.Arg384Gln",
        "hgvsWellDefined": "ENSP00000498731.1:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000651168.1:c.1241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499074.1:p.Arg414Gln",
        "hgvsWellDefined": "ENSP00000499074.1:p.Arg414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000466756.2:c.89+1861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "+",
          "endIntronOffset": 2741,
          "referenceAllele": "G",
          "start": 719,
          "startIntronDirection": "+",
          "startIntronOffset": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000473112.6:c.719+2741G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.6:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.2:p.Arg384Gln",
        "hgvsWellDefined": "ENSP00000417990.2:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000481262.6:c.650+1861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.6:c.1241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.2:p.Arg414Gln",
        "hgvsWellDefined": "ENSP00000418397.2:p.Arg414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000491554.6:c.535+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453146.1:n.535+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000497816.1:n.609G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "G",
          "start": 101,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000559575.5:c.102-957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.1:p.Arg384Gln",
        "hgvsWellDefined": "NP_001152980.1:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681922",
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.3:c.1241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.2:p.Arg414Gln",
        "hgvsWellDefined": "NP_002216.2:p.Arg414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254350.2:c.1147+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254407.1:n.1147+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 2741,
          "referenceAllele": "G",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254356.2:c.875+2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254413.1:n.875+2741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720491.2:c.1090+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720554.1:n.1090+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720492.2:c.1147+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720555.1:n.1147+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720493.2:c.1147+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720556.1:n.1147+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720494.2:c.1148-957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720557.1:n.1148-957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 2741,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.2:c.969+2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:n.969+2741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_011521523.1:c.1147+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519825.1:n.1147+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243097.3:n.1147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1053,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243098.2:n.1053+1861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_429453.2:n.1342G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932463",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.2:c.1142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Arg381Gln",
        "hgvsWellDefined": "NP_001152980.2:p.Arg381Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879938",
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.2:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Arg395Gln",
        "hgvsWellDefined": "NP_001341526.1:p.Arg395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.2:c.1138+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:n.1138+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Arg440Gln",
        "hgvsWellDefined": "NP_001341528.2:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.2:c.1225+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:n.1225+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.1138+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:n.1138+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Arg411Gln",
        "hgvsWellDefined": "NP_002216.3:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1548,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.1548+1861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 2741,
          "referenceAllele": "G",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.969+2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:n.969+2741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.1234+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:n.1234+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1265,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.1234+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:n.1234+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.1234+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:n.1234+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1498,
          "referenceAllele": "G",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.1271G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Arg424Gln",
        "hgvsWellDefined": "XP_016877643.1:p.Arg424Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.1235-957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:n.1235-957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "endIntronDirection": "+",
          "endIntronOffset": 2741,
          "referenceAllele": "G",
          "start": 1087,
          "startIntronDirection": "+",
          "startIntronOffset": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.1056+2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:n.1056+2741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.1591G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932463",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.1142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Arg381Gln",
        "hgvsWellDefined": "NP_001152980.2:p.Arg381Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879938",
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Arg395Gln",
        "hgvsWellDefined": "NP_001341526.1:p.Arg395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.1138+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:n.1138+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Arg440Gln",
        "hgvsWellDefined": "NP_001341528.2:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.1225+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:n.1225+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.1138+1861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:n.1138+1861G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Arg411Gln",
        "hgvsWellDefined": "NP_002216.3:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Arg411Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Arg411Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "G",
          "start": 1550,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.1550+1861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}