{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA245489",
  "communityStandardTitle": [
    "NM_153717.3(EVC):c.569G>T (p.Arg190Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194544[alleleid]",
        "alleleId": 194544,
        "preferredName": "NM_153717.3(EVC):c.569G>T (p.Arg190Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197383",
        "RCV": [
          "RCV001157455",
          "RCV001563967",
          "RCV002515263",
          "RCV000178396",
          "RCV002517731"
        ],
        "variationId": 197383
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5733336-G-T",
        "id": "4-5733336-G-T",
        "variant": "4:5733336 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5733336G>T?assembly=hg19",
        "id": "chr4:g.5733336G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5731609G>T?assembly=hg38",
        "id": "chr4:g.5731609G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113002470",
        "rs": 113002470
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5733336-G-T?dataset=gnomad_r2_1",
        "id": "4-5733336-G-T",
        "variant": "4:5733336 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5731609-G-T?dataset=gnomad_r3",
        "id": "4-5731609-G-T",
        "variant": "4:5731609 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5731609-G-T?dataset=gnomad_r4",
        "id": "4-5731609-G-T",
        "variant": "4:5731609 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5731609,
          "referenceAllele": "G",
          "start": 5731608
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5731609G>T",
        "CM000666.2:g.5731609G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5733336,
          "referenceAllele": "G",
          "start": 5733335
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5733336G>T",
        "CM000666.1:g.5733336G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5784237,
          "referenceAllele": "G",
          "start": 5784236
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5784237G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25413,
          "referenceAllele": "G",
          "start": 25412
        }
      ],
      "hgvs": [
        "NG_008843.1:g.25413G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001238"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.11:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Arg190Leu",
        "hgvsWellDefined": "ENSP00000264956.6:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.569G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.569G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Arg190Leu"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Arg190Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.10:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Arg190Leu",
        "hgvsWellDefined": "ENSP00000264956.6:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000509451.1:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426774.1:p.Arg190Leu",
        "hgvsWellDefined": "ENSP00000426774.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909373",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.1:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_001293019.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910286",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.1:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_001293021.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA245490",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_714928.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_006713928.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_006713929.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.1:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_011511721.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.2:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.2:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.2:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924923.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924927.1:n.759G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "G",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924928.1:n.761G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.3:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_006713928.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.3:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_006713929.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_011513419.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511721.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_011511721.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_017007883.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863372.1:p.Arg190Leu",
        "hgvsWellDefined": "XP_016863372.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741164.1:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741165.1:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741166.1:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741167.1:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741168.1:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741169.2:n.751G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741170.1:n.751G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.3:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.3:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.3:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.2:n.749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA245490",
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.3:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_714928.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.569G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.569G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Arg190Leu"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Arg190Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909373",
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_001293019.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910286",
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.2:c.569G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Arg190Leu",
        "hgvsWellDefined": "NP_001293021.1:p.Arg190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683851"
    }
  ],
  "type": "nucleotide"
}