{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2171769057",
  "communityStandardTitle": [
    "NM_002225.5(IVD):c.1199A= (p.Tyr400=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773560012",
        "rs": 773560012
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40418190,
          "referenceAllele": "A",
          "start": 40418189
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40418190A=",
        "CM000677.2:g.40418190A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40710389,
          "referenceAllele": "A",
          "start": 40710388
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40710389A=",
        "CM000677.1:g.40710389A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 38497681,
          "referenceAllele": "A",
          "start": 38497680
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38497681A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17704,
          "referenceAllele": "A",
          "start": 17703
        }
      ],
      "hgvs": [
        "NG_011986.1:g.17704A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17706,
          "referenceAllele": "A",
          "start": 17705
        }
      ],
      "hgvs": [
        "NG_011986.2:g.17706A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.7:c.1109A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.3:p.Tyr370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.8:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.3:p.Tyr400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.1199A="
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.1199A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Tyr400="
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Tyr400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "A",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000650656.1:c.1118A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498731.1:p.Tyr373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "A",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000651168.1:c.1208A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499074.1:p.Tyr403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000466756.2:c.89+1828A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "+",
          "endIntronOffset": 2708,
          "referenceAllele": "A",
          "start": 719,
          "startIntronDirection": "+",
          "startIntronOffset": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000473112.6:c.719+2708A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.6:c.1118A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.2:p.Tyr373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000481262.6:c.650+1828A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.6:c.1208A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.2:p.Tyr403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000491554.6:c.535+1828A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453146.1:n.535+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "A",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000497816.1:n.576A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "endIntronDirection": "-",
          "endIntronOffset": 989,
          "referenceAllele": "A",
          "start": 101,
          "startIntronDirection": "-",
          "startIntronOffset": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000559575.5:c.102-990A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "A",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.1:c.1118A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.1:p.Tyr373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "A",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.3:c.1208A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.2:p.Tyr403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254350.2:c.1147+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254407.1:n.1147+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 2708,
          "referenceAllele": "A",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254356.2:c.875+2708A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254413.1:n.875+2708A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720491.2:c.1090+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720554.1:n.1090+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720492.2:c.1147+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720555.1:n.1147+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720493.2:c.1147+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720556.1:n.1147+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "-",
          "endIntronOffset": 989,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "-",
          "startIntronOffset": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720494.2:c.1148-990A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720557.1:n.1148-990A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 2708,
          "referenceAllele": "A",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.2:c.969+2708A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:n.969+2708A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_011521523.1:c.1147+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519825.1:n.1147+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "A",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243097.3:n.1114A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1053,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243098.2:n.1053+1828A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_429453.2:n.1309A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.2:c.1109A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Tyr370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "A",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.2:c.1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Tyr384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.2:c.1138+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:n.1138+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "A",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Tyr429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.2:c.1225+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:n.1225+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.1138+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:n.1138+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082170548",
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Tyr400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1548,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.1548+1828A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 2708,
          "referenceAllele": "A",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.969+2708A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:n.969+2708A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1266,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.1234+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:n.1234+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1265,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.1234+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:n.1234+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.1234+1828A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:n.1234+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "referenceAllele": "A",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Tyr413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "endIntronDirection": "-",
          "endIntronOffset": 989,
          "referenceAllele": "A",
          "start": 1263,
          "startIntronDirection": "-",
          "startIntronOffset": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.1235-990A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:n.1235-990A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "endIntronDirection": "+",
          "endIntronOffset": 2708,
          "referenceAllele": "A",
          "start": 1087,
          "startIntronDirection": "+",
          "startIntronOffset": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.1056+2708A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:n.1056+2708A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1558,
          "referenceAllele": "A",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.1558A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.1109A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Tyr370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "A",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Tyr384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.1138+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:n.1138+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "A",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Tyr429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.1225+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:n.1225+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.1138+1828A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:n.1138+1828A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082170548",
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Tyr400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.1199A="
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.1199A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Tyr400="
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Tyr400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "endIntronDirection": "+",
          "endIntronOffset": 1828,
          "referenceAllele": "A",
          "start": 1550,
          "startIntronDirection": "+",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.1550+1828A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}