{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347719990",
  "communityStandardTitle": [
    "NM_001371279.1(REEP1):c.154G>A (p.Glu52Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1165631[alleleid]",
        "alleleId": 1165631,
        "preferredName": "NM_001371279.1(REEP1):c.154G>A (p.Glu52Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1176093",
        "RCV": [
          "RCV001531493"
        ],
        "variationId": 1176093
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.86491116C>T?assembly=hg19",
        "id": "chr2:g.86491116C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.86263993C>T?assembly=hg38",
        "id": "chr2:g.86263993C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2104303049",
        "rs": 2104303049
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 86263993,
          "referenceAllele": "C",
          "start": 86263992
        }
      ],
      "hgvs": [
        "NC_000002.12:g.86263993C>T",
        "CM000664.2:g.86263993C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 86491116,
          "referenceAllele": "C",
          "start": 86491115
        }
      ],
      "hgvs": [
        "NC_000002.11:g.86491116C>T",
        "CM000664.1:g.86491116C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 86344627,
          "referenceAllele": "C",
          "start": 86344626
        }
      ],
      "hgvs": [
        "NC_000002.10:g.86344627C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79091,
          "referenceAllele": "G",
          "start": 79090
        }
      ],
      "hgvs": [
        "NG_013037.1:g.79091G>A",
        "LRG_713:g.79091G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002681"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000643817.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495610.2:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000495610.2:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000686220.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509904.1:p.Glu25Lys",
        "hgvsWellDefined": "ENSP00000509904.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105,
          "endIntronDirection": "+",
          "endIntronOffset": 18177,
          "referenceAllele": "G",
          "start": 105,
          "startIntronDirection": "+",
          "startIntronOffset": 18176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000688400.1:c.105+18177G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510490.1:n.105+18177G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000689156.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509143.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000509143.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 9178,
          "referenceAllele": "G",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 9179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000691093.1:c.3-9179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509465.1:n.3-9179G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000691703.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508496.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000508496.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 9178,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 9179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000692664.1:c.33-9179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508656.1:n.33-9179G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000693329.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508490.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000508490.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000453231.6:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392197.2:p.Glu59Lys",
        "hgvsWellDefined": "ENSP00000392197.2:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000535845.6:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437567.1:p.Glu25Lys",
        "hgvsWellDefined": "ENSP00000437567.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000538924.7:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438346.3:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000438346.3:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538924.7:c.154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371279.1:c.154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438346.3:p.Glu52Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001358208.1:p.Glu52Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000541910.6:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442681.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000442681.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000642243.1:c.112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494960.1:p.Glu38Lys",
        "hgvsWellDefined": "ENSP00000494960.1:p.Glu38Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000643817.1:c.112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495610.1:p.Glu38Lys",
        "hgvsWellDefined": "ENSP00000495610.1:p.Glu38Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000644644.1:c.112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494305.1:p.Glu38Lys",
        "hgvsWellDefined": "ENSP00000494305.1:p.Glu38Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000165698.9:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000165698.5:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000165698.5:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000428491.5:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400607.1:p.Glu25Lys",
        "hgvsWellDefined": "ENSP00000400607.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000437769.5:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401140.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000401140.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000453231.5:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392197.1:p.Glu59Lys",
        "hgvsWellDefined": "ENSP00000392197.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000473407.5:n.244G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "referenceAllele": "G",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000489855.2:c.90G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000535845.5:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437567.1:p.Glu25Lys",
        "hgvsWellDefined": "ENSP00000437567.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000538924.5:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438346.1:p.Glu59Lys",
        "hgvsWellDefined": "ENSP00000438346.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "ENST00000541910.5:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442681.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000442681.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499240456",
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164730.1:c.175G>A",
        "LRG_713t1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158202.1:p.Glu59Lys",
        "hgvsWellDefined": "NP_001158202.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002575",
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164731.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158203.1:p.Glu25Lys",
        "hgvsWellDefined": "NP_001158203.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002728",
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164732.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158204.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001158204.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001562",
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_022912.2:c.154G>A",
        "LRG_713t2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075063.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_075063.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_005264502.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264559.1:p.Glu52Lys",
        "hgvsWellDefined": "XP_005264559.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_005264504.1:c.40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264561.1:p.Glu14Lys",
        "hgvsWellDefined": "XP_005264561.1:p.Glu14Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_011533043.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531345.1:p.Glu59Lys",
        "hgvsWellDefined": "XP_011531345.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_011533044.1:c.136G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531346.1:p.Glu46Lys",
        "hgvsWellDefined": "XP_011531346.1:p.Glu46Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "G",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_011533045.1:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531347.1:p.Glu44Lys",
        "hgvsWellDefined": "XP_011531347.1:p.Glu44Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_011533046.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531348.1:p.Glu59Lys",
        "hgvsWellDefined": "XP_011531348.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_005264502.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264559.1:p.Glu52Lys",
        "hgvsWellDefined": "XP_005264559.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145,
          "referenceAllele": "G",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_011533045.2:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531347.1:p.Glu44Lys",
        "hgvsWellDefined": "XP_011531347.1:p.Glu44Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_017004725.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860214.1:p.Glu59Lys",
        "hgvsWellDefined": "XP_016860214.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_017004726.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860215.1:p.Glu59Lys",
        "hgvsWellDefined": "XP_016860215.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "XM_017004727.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860216.1:p.Glu59Lys",
        "hgvsWellDefined": "XP_016860216.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499240456",
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164730.2:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158202.1:p.Glu59Lys",
        "hgvsWellDefined": "NP_001158202.1:p.Glu59Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002575",
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164731.2:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158203.1:p.Glu25Lys",
        "hgvsWellDefined": "NP_001158203.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002728",
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001164732.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158204.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001158204.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678374"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828479760",
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001371279.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358208.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001358208.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538924.7:c.154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371279.1:c.154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438346.3:p.Glu52Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001358208.1:p.Glu52Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828480133",
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_001371280.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358209.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001358209.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692781"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001562",
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025786",
      "geneNCBI_id": 65055,
      "geneSymbol": "REEP1",
      "hgvs": [
        "NM_022912.3:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075063.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_075063.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698610"
    }
  ],
  "type": "nucleotide"
}