{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391721248",
  "communityStandardTitle": [
    "NM_002225.5(IVD):c.883A>T (p.Met295Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=623116[alleleid]",
        "alleleId": 623116,
        "preferredName": "NM_002225.5(IVD):c.883A>T (p.Met295Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635282",
        "RCV": [
          "RCV000984025"
        ],
        "variationId": 635282
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40707604A>T?assembly=hg19",
        "id": "chr15:g.40707604A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40415405A>T?assembly=hg38",
        "id": "chr15:g.40415405A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1595786853",
        "rs": 1595786853
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40415405,
          "referenceAllele": "A",
          "start": 40415404
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40415405A>T",
        "CM000677.2:g.40415405A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40707604,
          "referenceAllele": "A",
          "start": 40707603
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40707604A>T",
        "CM000677.1:g.40707604A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 38494896,
          "referenceAllele": "A",
          "start": 38494895
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38494896A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14919,
          "referenceAllele": "A",
          "start": 14918
        }
      ],
      "hgvs": [
        "NG_011986.1:g.14919A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14921,
          "referenceAllele": "A",
          "start": 14920
        }
      ],
      "hgvs": [
        "NG_011986.2:g.14921A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.7:c.793A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.3:p.Met265Leu",
        "hgvsWellDefined": "ENSP00000417990.3:p.Met265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.8:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.3:p.Met295Leu",
        "hgvsWellDefined": "ENSP00000418397.3:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.883A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.883A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Met295Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Met295Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "A",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000650656.1:c.802A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498731.1:p.Met268Leu",
        "hgvsWellDefined": "ENSP00000498731.1:p.Met268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "A",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000651168.1:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499074.1:p.Met298Leu",
        "hgvsWellDefined": "ENSP00000499074.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000473112.6:c.642A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000479013.6:c.802A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417990.2:p.Met268Leu",
        "hgvsWellDefined": "ENSP00000417990.2:p.Met268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "A",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000481262.6:c.395A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000487418.6:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418397.2:p.Met298Leu",
        "hgvsWellDefined": "ENSP00000418397.2:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "A",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000491554.6:c.280A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453146.1:p.Met94Leu",
        "hgvsWellDefined": "ENSP00000453146.1:p.Met94Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "A",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000497252.5:n.264A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "A",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000497816.1:n.260A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "ENST00000560660.1:n.582A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "A",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.1:c.802A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.1:p.Met268Leu",
        "hgvsWellDefined": "NP_001152980.1:p.Met268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "A",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.3:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.2:p.Met298Leu",
        "hgvsWellDefined": "NP_002216.2:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254350.2:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254407.1:p.Met298Leu",
        "hgvsWellDefined": "XP_005254407.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254356.2:c.798A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254413.1:p.Ser266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720491.2:c.835A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720554.1:p.Met279Leu",
        "hgvsWellDefined": "XP_006720554.1:p.Met279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720492.2:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720555.1:p.Met298Leu",
        "hgvsWellDefined": "XP_006720555.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720493.2:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720556.1:p.Met298Leu",
        "hgvsWellDefined": "XP_006720556.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720494.2:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720557.1:p.Met298Leu",
        "hgvsWellDefined": "XP_006720557.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.2:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Met298Leu",
        "hgvsWellDefined": "XP_006720558.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_011521523.1:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519825.1:p.Met298Leu",
        "hgvsWellDefined": "XP_011519825.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243097.3:n.798A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_243098.2:n.798A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "A",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_429453.2:n.993A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932371",
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.2:c.793A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Met265Leu",
        "hgvsWellDefined": "NP_001152980.2:p.Met265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879847",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.2:c.835A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Met279Leu",
        "hgvsWellDefined": "NP_001341526.1:p.Met279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880221",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.2:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Met295Leu",
        "hgvsWellDefined": "NP_001341527.2:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.970A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Met324Leu",
        "hgvsWellDefined": "NP_001341528.2:p.Met324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037997",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.2:c.970A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Met324Leu",
        "hgvsWellDefined": "NP_001341529.2:p.Met324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881174",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Met295Leu",
        "hgvsWellDefined": "NP_001341530.2:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367137",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Met295Leu",
        "hgvsWellDefined": "NP_002216.3:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "A",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.1293A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "A",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.892A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Met298Leu",
        "hgvsWellDefined": "XP_006720558.1:p.Met298Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.979A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:p.Met327Leu",
        "hgvsWellDefined": "XP_016877638.1:p.Met327Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "A",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.979A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Met327Leu",
        "hgvsWellDefined": "XP_016877639.1:p.Met327Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "A",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.979A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:p.Met327Leu",
        "hgvsWellDefined": "XP_016877642.1:p.Met327Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "A",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.922A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Met308Leu",
        "hgvsWellDefined": "XP_016877643.1:p.Met308Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.979A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:p.Met327Leu",
        "hgvsWellDefined": "XP_016877644.1:p.Met327Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "A",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.979A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Met327Leu",
        "hgvsWellDefined": "XP_016877646.1:p.Met327Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "A",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.1242A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "A",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751264.1:n.1349A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932371",
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.793A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Met265Leu",
        "hgvsWellDefined": "NP_001152980.2:p.Met265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879847",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.835A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Met279Leu",
        "hgvsWellDefined": "NP_001341526.1:p.Met279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880221",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Met295Leu",
        "hgvsWellDefined": "NP_001341527.2:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.970A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Met324Leu",
        "hgvsWellDefined": "NP_001341528.2:p.Met324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037997",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.970A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Met324Leu",
        "hgvsWellDefined": "NP_001341529.2:p.Met324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881174",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Met295Leu",
        "hgvsWellDefined": "NP_001341530.2:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367137",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.883A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Met295Leu",
        "hgvsWellDefined": "NP_002216.3:p.Met295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.883A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.883A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Met295Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Met295Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.1295A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}