{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312656",
  "communityStandardTitle": [
    "NM_002225.5(IVD):c.205G>A (p.Asp69Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1176731",
        "active": true,
        "id": "COSM1176731"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200282[alleleid]",
        "alleleId": 200282,
        "preferredName": "NM_002225.5(IVD):c.205G>A (p.Asp69Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1321422",
        "RCV": [
          "RCV001779516"
        ],
        "variationId": 1321422
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-40699897-G-A",
        "id": "15-40699897-G-A",
        "variant": "15:40699897 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40699897G>A?assembly=hg19",
        "id": "chr15:g.40699897G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40407696G>A?assembly=hg38",
        "id": "chr15:g.40407696G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747273828",
        "rs": 747273828
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40699897-G-A?dataset=gnomad_r2_1",
        "id": "15-40699897-G-A",
        "variant": "15:40699897 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40407696-G-A?dataset=gnomad_r3",
        "id": "15-40407696-G-A",
        "variant": "15:40407696 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40407696-G-A?dataset=gnomad_r4",
        "id": "15-40407696-G-A",
        "variant": "15:40407696 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40407696,
          "referenceAllele": "G",
          "start": 40407695
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40407696G>A",
        "CM000677.2:g.40407696G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40699897,
          "referenceAllele": "G",
          "start": 40699896
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40699897G>A",
        "CM000677.1:g.40699897G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 38487189,
          "referenceAllele": "G",
          "start": 38487188
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38487189G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7212,
          "referenceAllele": "G",
          "start": 7211
        }
      ],
      "hgvs": [
        "NG_011986.1:g.7212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7212,
          "referenceAllele": "G",
          "start": 7211
        }
      ],
      "hgvs": [
        "NG_011986.2:g.7212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.7:c.145-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.3:n.145-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.8:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.3:p.Asp69Asn",
        "hgvsWellDefined": "ENSP00000418397.3:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.205G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.205G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Asp69Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Asp69Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000610693.5:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479359.2:p.Asp69Asn",
        "hgvsWellDefined": "ENSP00000479359.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000650656.1:c.154-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498731.1:n.154-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000651168.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499074.1:p.Asp72Asn",
        "hgvsWellDefined": "ENSP00000499074.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.6:c.154-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.2:n.154-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.6:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.2:p.Asp72Asn",
        "hgvsWellDefined": "ENSP00000418397.2:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000558610.5:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453821.1:p.Asp53Asn",
        "hgvsWellDefined": "ENSP00000453821.1:p.Asp53Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000610693.4:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479359.1:p.Asp72Asn",
        "hgvsWellDefined": "ENSP00000479359.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.1:c.154-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.1:n.154-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312657",
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.3:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.2:p.Asp72Asn",
        "hgvsWellDefined": "NP_002216.2:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254350.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254407.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_005254407.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254356.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254413.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_005254413.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720491.2:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720554.1:p.Asp53Asn",
        "hgvsWellDefined": "XP_006720554.1:p.Asp53Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720492.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720555.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_006720555.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720493.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720556.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_006720556.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720494.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720557.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_006720557.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_006720558.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_011521523.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519825.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_011519825.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_011521524.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519826.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_011519826.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243097.3:n.214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243098.2:n.214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_429453.2:n.315G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.2:c.145-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:n.145-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879646",
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.2:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Asp53Asn",
        "hgvsWellDefined": "NP_001341526.1:p.Asp53Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880015",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.2:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341527.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880365",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341528.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880730",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.2:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341529.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880968",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341530.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081661",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Asp69Asn",
        "hgvsWellDefined": "NP_002216.3:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.615G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_006720558.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877638.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877639.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877642.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Asp53Asn",
        "hgvsWellDefined": "XP_016877643.1:p.Asp53Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877644.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877646.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022158.2:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877647.1:p.Asp72Asn",
        "hgvsWellDefined": "XP_016877647.1:p.Asp72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.564G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751264.1:n.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.145-243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:n.145-243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879646",
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Asp53Asn",
        "hgvsWellDefined": "NP_001341526.1:p.Asp53Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880015",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341527.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880365",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341528.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880730",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341529.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880968",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Asp69Asn",
        "hgvsWellDefined": "NP_001341530.2:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081661",
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.205G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Asp69Asn",
        "hgvsWellDefined": "NP_002216.3:p.Asp69Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.205G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.205G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Asp69Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Asp69Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}