{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1477701114",
  "communityStandardTitle": [
    "NM_006457.5(PDLIM5):c.407C= (p.Ser136=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2452600",
        "rs": 2452600
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 94575731,
          "referenceAllele": "C",
          "start": 94575730
        }
      ],
      "hgvs": [
        "NC_000004.12:g.94575731C=",
        "CM000666.2:g.94575731C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 95496882,
          "referenceAllele": "C",
          "start": 95496881
        }
      ],
      "hgvs": [
        "NC_000004.11:g.95496882C=",
        "CM000666.1:g.95496882C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 95715905,
          "referenceAllele": "C",
          "start": 95715904
        }
      ],
      "hgvs": [
        "NC_000004.10:g.95715905C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000317968.9:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321746.4:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317968.9:c.407C="
          },
          "RefSeq": {
            "hgvs": "NM_006457.5:c.407C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321746.4:p.Ser136="
          },
          "RefSeq": {
            "hgvs": "NP_006448.5:p.Ser136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000317968.8:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321746.4:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000318007.9:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322021.5:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000380180.7:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369527.3:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000437932.5:c.-266+2338C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398469.2:n.-266+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000503974.5:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424297.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000508216.5:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426804.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000508531.1:n.89-212C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 195,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000509357.5:c.195+2338C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422833.1:n.195+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000510099.5:c.323C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486834.1:p.Ser108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000513341.5:c.195-212C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000514743.5:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424360.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000514830.5:n.422-212C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000542407.5:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442187.2:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000615540.4:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480359.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "ENST00000627587.2:c.*135C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486938.1:n.*135C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011513.3:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011513.3:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011515.2:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011515.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011516.2:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011516.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256425.1:c.-266+2338C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243354.1:n.-266+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256426.1:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243355.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256427.1:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243356.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256428.1:c.41C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243357.1:p.Ser14="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_006457.4:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006448.4:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262693.3:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262750.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262695.3:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262752.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262696.3:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262753.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262698.3:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262755.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714066.2:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714129.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714067.2:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714130.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714068.2:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714131.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714069.2:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714132.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714070.2:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714133.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_011531543.1:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529845.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262693.5:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262750.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262695.5:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262752.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262696.4:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262753.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_005262698.4:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262755.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714066.4:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714129.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714068.3:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714131.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714069.4:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714132.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_006714070.3:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714133.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_011531543.3:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529845.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_017007657.2:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863146.1:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_017007658.1:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863147.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "XM_024453877.1:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309645.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011513.4:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011513.4:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256427.2:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243356.2:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256428.2:c.41C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243357.2:p.Ser14="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873654",
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_006457.5:c.407C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006448.5:p.Ser136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317968.9:c.407C="
          },
          "RefSeq": {
            "hgvs": "NM_006457.5:c.407C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321746.4:p.Ser136="
          },
          "RefSeq": {
            "hgvs": "NP_006448.5:p.Ser136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011515.3:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011515.1:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001011516.3:c.291+2338C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001011516.1:n.291+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 2338,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256425.2:c.-266+2338C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243354.2:n.-266+2338C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017468",
      "geneNCBI_id": 10611,
      "geneSymbol": "PDLIM5",
      "hgvs": [
        "NM_001256426.2:c.292-212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243355.2:n.292-212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714765"
    }
  ],
  "type": "nucleotide"
}