{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356153231",
  "communityStandardTitle": [
    "NM_153717.3(EVC):c.1099-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2075059[alleleid]",
        "alleleId": 2075059,
        "preferredName": "NM_153717.3(EVC):c.1099-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2014563",
        "RCV": [
          "RCV002830096"
        ],
        "variationId": 2014563
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5754561A>C?assembly=hg19",
        "id": "chr4:g.5754561A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5752834A>C?assembly=hg38",
        "id": "chr4:g.5752834A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553875596",
        "rs": 1553875596
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5752834-A-C?dataset=gnomad_r4",
        "id": "4-5752834-A-C",
        "variant": "4:5752834 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5752834,
          "referenceAllele": "A",
          "start": 5752833
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5752834A>C",
        "CM000666.2:g.5752834A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5754561,
          "referenceAllele": "A",
          "start": 5754560
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5754561A>C",
        "CM000666.1:g.5754561A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5805462,
          "referenceAllele": "A",
          "start": 5805461
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5805462A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46638,
          "referenceAllele": "A",
          "start": 46637
        }
      ],
      "hgvs": [
        "NG_008843.1:g.46638A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001238"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.11:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.1099-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.1099-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:n.1099-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:n.1099-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1282,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.10:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "endIntronDirection": "-",
          "endIntronOffset": 4521,
          "referenceAllele": "T",
          "start": 1647,
          "startIntronDirection": "-",
          "startIntronOffset": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002365",
      "geneNCBI_id": 1400,
      "geneSymbol": "CRMP1",
      "hgvs": [
        "ENST00000506216.5:n.1648-4522T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1264,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000509451.1:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426774.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 160,
          "referenceAllele": "A",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000514919.1:n.160A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1282,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.1:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1282,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.1:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1282,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1289,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.1:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.2:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.2:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.2:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924923.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924927.1:n.1289-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1290,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924928.1:n.1291-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1279,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.3:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1279,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.3:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1276,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1275,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1275,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_017007883.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863372.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741164.1:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741165.1:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741166.1:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741167.1:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741168.1:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741169.2:n.1143-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1280,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741170.1:n.1281-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 583,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741171.1:n.584-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.3:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.3:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.3:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.2:n.1279-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.3:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.1099-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.1099-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:n.1099-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:n.1099-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.2:c.1099-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:n.1099-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683851"
    }
  ],
  "type": "nucleotide"
}