{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356151124",
  "communityStandardTitle": [
    "NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3088044[alleleid]",
        "alleleId": 3088044,
        "preferredName": "NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2932390",
        "RCV": [
          "RCV003795604"
        ],
        "variationId": 2932390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5810028G>T?assembly=hg19",
        "id": "chr4:g.5810028G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5808301G>T?assembly=hg38",
        "id": "chr4:g.5808301G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2474656314",
        "rs": 2474656314
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5808301,
          "referenceAllele": "G",
          "start": 5808300
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5808301G>T",
        "CM000666.2:g.5808301G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5810028,
          "referenceAllele": "G",
          "start": 5810027
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5810028G>T",
        "CM000666.1:g.5810028G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5860929,
          "referenceAllele": "G",
          "start": 5860928
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5860929G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102105,
          "referenceAllele": "G",
          "start": 102104
        }
      ],
      "hgvs": [
        "NG_008843.1:g.102105G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001238"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.11:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Glu888Ter",
        "hgvsWellDefined": "ENSP00000264956.6:p.Glu888_Leu992delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.2662G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.2662G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Glu888Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Glu888Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.10:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Glu888Ter",
        "hgvsWellDefined": "ENSP00000264956.6:p.Glu888_Leu992delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "endIntronDirection": "+",
          "endIntronOffset": 17193,
          "referenceAllele": "C",
          "start": 1647,
          "startIntronDirection": "+",
          "startIntronOffset": 17192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002365",
      "geneNCBI_id": 1400,
      "geneSymbol": "CRMP1",
      "hgvs": [
        "ENST00000506216.5:n.1647+17193C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910005",
      "coordinates": [
        {
          "allele": "T",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.1:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Glu888Ter",
        "hgvsWellDefined": "NP_001293019.1:p.Glu888_Leu991delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742012532",
      "coordinates": [
        {
          "allele": "T",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.2:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Glu888Ter",
        "hgvsWellDefined": "NP_714928.1:p.Glu888_Leu992delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.2:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Glu888Ter",
        "hgvsWellDefined": "XP_006713928.1:p.Glu888_Gly931delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.2:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Glu888Ter",
        "hgvsWellDefined": "XP_006713929.1:p.Glu888_Gly930delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.2:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.2:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.2:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924923.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924927.1:n.2852G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "G",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713865.3:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713928.1:p.Glu888Ter",
        "hgvsWellDefined": "XP_006713928.1:p.Glu888_Gly931delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "G",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XM_006713866.3:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713929.1:p.Glu888Ter",
        "hgvsWellDefined": "XP_006713929.1:p.Glu888_Gly930delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741164.1:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741165.1:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741166.1:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741167.1:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741168.1:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2706,
          "referenceAllele": "G",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741169.2:n.2706G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2927,
          "referenceAllele": "G",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741170.1:n.2927G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_001741171.1:n.2147G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427473.3:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427475.3:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_427476.3:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924920.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924921.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924922.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924924.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924925.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.2:n.2842G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742012532",
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.3:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Glu888Ter",
        "hgvsWellDefined": "NP_714928.1:p.Glu888_Leu992delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.2662G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.2662G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Glu888Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Glu888Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910005",
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.2:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Glu888Ter",
        "hgvsWellDefined": "NP_001293019.1:p.Glu888_Leu991delinsAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    }
  ],
  "type": "nucleotide"
}