{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1663831311",
  "communityStandardTitle": [
    "NM_001431.4(EPB41L2):c.706-8515A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7769153",
        "rs": 7769153
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 130935224,
          "referenceAllele": "T",
          "start": 130935223
        }
      ],
      "hgvs": [
        "NC_000006.12:g.130935224T=",
        "CM000668.2:g.130935224T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131256364,
          "referenceAllele": "T",
          "start": 131256363
        }
      ],
      "hgvs": [
        "NC_000006.11:g.131256364T=",
        "CM000668.1:g.131256364T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131298057,
          "referenceAllele": "T",
          "start": 131298056
        }
      ],
      "hgvs": [
        "NC_000006.10:g.131298057T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000706365.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516350.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000337057.8:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338481.3:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337057.8:c.706-8515A="
          },
          "RefSeq": {
            "hgvs": "NM_001431.4:c.706-8515A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338481.3:n.706-8515A="
          },
          "RefSeq": {
            "hgvs": "NP_001422.1:n.706-8515A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000639623.1:c.682-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494672.1:n.682-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000337057.7:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338481.3:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000368128.6:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357110.2:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000392427.7:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376222.3:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 881,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000445890.6:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402041.2:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000525193.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431988.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000525271.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432803.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000526333.1:n.103-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000527411.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436348.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000527659.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431647.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 91,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000528179.5:n.92-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000528282.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434308.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000529208.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436641.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000530148.5:n.137-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000530481.5:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434576.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000610431.4:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477544.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "ENST00000628542.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486691.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001135554.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129026.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001135555.3:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129027.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001199388.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186317.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001252660.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001239589.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001431.3:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001422.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_005266840.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266897.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_005266841.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266898.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 915,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_006715356.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715419.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 915,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_006715362.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715425.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 851,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535521.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533823.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535522.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533824.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535523.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533825.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535524.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533826.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535525.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533827.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535526.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533828.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535527.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533829.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535528.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533830.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535529.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533831.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535530.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533832.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535531.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533833.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535532.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533834.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535533.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533835.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535534.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533836.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535535.1:c.-501-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533837.1:n.-501-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535536.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533838.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_942326.1:n.888-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_942328.1:n.888-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350299.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337228.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350301.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337230.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350302.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337231.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350303.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337232.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350304.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337233.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350305.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337234.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350306.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337235.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350307.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337236.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350308.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337237.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350309.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337238.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350310.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337239.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350311.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337240.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350312.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337241.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350313.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337242.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350314.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337243.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350315.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337244.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350320.1:c.-501-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337249.1:n.-501-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NR_146620.1:n.169-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535524.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533826.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535525.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533827.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535527.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533829.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_011535528.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533830.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010350.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865839.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010351.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865840.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010352.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865841.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010353.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865842.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010356.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865845.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_017010364.1:c.-501-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865853.1:n.-501-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XM_024446349.1:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302117.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_001743213.2:n.817-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_001743215.2:n.817-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_001743216.2:n.817-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "XR_001743217.2:n.817-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001431.4:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001422.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337057.8:c.706-8515A="
          },
          "RefSeq": {
            "hgvs": "NM_001431.4:c.706-8515A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338481.3:n.706-8515A="
          },
          "RefSeq": {
            "hgvs": "NP_001422.1:n.706-8515A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001135554.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129026.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001135555.4:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129027.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001199388.3:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186317.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001252660.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001239589.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350299.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337228.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350301.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337230.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350302.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337231.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350303.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337232.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350304.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337233.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350305.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337234.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350306.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337235.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350307.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337236.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350308.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337237.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350310.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337239.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350311.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337240.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350312.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337241.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350313.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337242.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350314.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337243.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350315.2:c.706-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337244.1:n.706-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NM_001350320.2:c.-501-8515A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337249.1:n.-501-8515A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "-",
          "endIntronOffset": 8514,
          "referenceAllele": "A",
          "start": 91,
          "startIntronDirection": "-",
          "startIntronOffset": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003379",
      "geneNCBI_id": 2037,
      "geneSymbol": "EPB41L2",
      "hgvs": [
        "NR_146620.2:n.92-8515A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731265"
    }
  ],
  "type": "nucleotide"
}