{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2835902",
  "communityStandardTitle": [
    "NM_153717.3(EVC):c.884C>G (p.Thr295Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543490[alleleid]",
        "alleleId": 543490,
        "preferredName": "NM_153717.3(EVC):c.884C>G (p.Thr295Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557239",
        "RCV": [
          "RCV000673355",
          "RCV002493115"
        ],
        "variationId": 557239
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5747013-C-G",
        "id": "4-5747013-C-G",
        "variant": "4:5747013 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5747013C>G?assembly=hg19",
        "id": "chr4:g.5747013C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5745286C>G?assembly=hg38",
        "id": "chr4:g.5745286C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754532508",
        "rs": 754532508
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5747013-C-G?dataset=gnomad_r2_1",
        "id": "4-5747013-C-G",
        "variant": "4:5747013 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5745286-C-G?dataset=gnomad_r3",
        "id": "4-5745286-C-G",
        "variant": "4:5745286 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5745286-C-G?dataset=gnomad_r4",
        "id": "4-5745286-C-G",
        "variant": "4:5745286 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5745286,
          "referenceAllele": "C",
          "start": 5745285
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5745286C>G",
        "CM000666.2:g.5745286C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5747013,
          "referenceAllele": "C",
          "start": 5747012
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5747013C>G",
        "CM000666.1:g.5747013C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5797914,
          "referenceAllele": "C",
          "start": 5797913
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5797914C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39090,
          "referenceAllele": "C",
          "start": 39089
        }
      ],
      "hgvs": [
        "NG_008843.1:g.39090C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001238"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.11:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Thr295Ser",
        "hgvsWellDefined": "ENSP00000264956.6:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.884C>G"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.884C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Thr295Ser"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Thr295Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.10:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Thr295Ser",
        "hgvsWellDefined": "ENSP00000264956.6:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000509451.1:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426774.1:p.Thr295Ser",
        "hgvsWellDefined": "ENSP00000426774.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909468",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.1:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_001293019.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910382",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.1:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_001293021.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831028",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_714928.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_006713928.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_006713929.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.1:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_011511721.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.2:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.2:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.2:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924923.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924927.1:n.1074C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924928.1:n.1076C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.3:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_006713928.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.3:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_006713929.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_011511721.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_017007883.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863372.1:p.Thr295Ser",
        "hgvsWellDefined": "XP_016863372.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741164.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741165.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741166.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741167.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741168.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 2861,
          "referenceAllele": "C",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741169.2:n.984-2862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741170.1:n.1066C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741171.1:n.369C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.3:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.3:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.3:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831028",
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.3:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_714928.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.884C>G"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.884C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Thr295Ser"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Thr295Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909468",
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_001293019.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910382",
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.2:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Thr295Ser",
        "hgvsWellDefined": "NP_001293021.1:p.Thr295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683851"
    }
  ],
  "type": "nucleotide"
}