{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2158707334",
  "communityStandardTitle": [
    "NM_016337.3(EVL):c.359-3119A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3783332",
        "rs": 3783332
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 100120420,
          "referenceAllele": "A",
          "start": 100120419
        }
      ],
      "hgvs": [
        "NC_000014.9:g.100120420A>C",
        "CM000676.2:g.100120420A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 100586757,
          "referenceAllele": "A",
          "start": 100586756
        }
      ],
      "hgvs": [
        "NC_000014.8:g.100586757A>C",
        "CM000676.1:g.100586757A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 99656510,
          "referenceAllele": "A",
          "start": 99656509
        }
      ],
      "hgvs": [
        "NC_000014.7:g.99656510A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000392920.8:c.359-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376652.3:n.359-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392920.8:c.359-3119A>C"
          },
          "RefSeq": {
            "hgvs": "NM_016337.3:c.359-3119A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376652.3:n.359-3119A>C"
          },
          "RefSeq": {
            "hgvs": "NP_057421.1:n.359-3119A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000392920.7:c.359-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376652.3:n.359-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 956,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000402714.6:c.353-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384720.2:n.353-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000544450.6:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437904.2:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000553875.5:c.*60-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452156.1:n.*60-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 62,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000553910.1:n.63-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "endIntronDirection": "-",
          "endIntronOffset": 6286,
          "referenceAllele": "A",
          "start": 427,
          "startIntronDirection": "-",
          "startIntronOffset": 6287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000554045.5:c.359-6287A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451226.1:n.359-6287A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000555706.5:c.314-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450723.1:n.314-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000557153.5:c.314-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452327.1:n.314-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "ENST00000557384.5:c.41-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450979.1:n.41-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "NM_016337.2:c.359-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057421.1:n.359-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_005267749.2:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267806.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_011536826.1:c.314-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535128.1:n.314-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_011536827.1:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535129.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_011536828.1:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535130.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_011536829.1:c.29-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535131.1:n.29-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 930,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 930,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "NM_001330221.1:c.353-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317150.1:n.353-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_005267749.3:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267806.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1078,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_011536828.2:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535130.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XM_017021363.2:c.371-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876852.1:n.371-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750355.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750356.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750357.2:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750359.2:n.497-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750360.1:n.952-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750361.1:n.399-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750362.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750363.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750364.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750366.1:n.1065-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_001750367.1:n.515-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "XR_002957557.1:n.1166-3119A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "NM_016337.3:c.359-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057421.1:n.359-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669095",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392920.8:c.359-3119A>C"
          },
          "RefSeq": {
            "hgvs": "NM_016337.3:c.359-3119A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376652.3:n.359-3119A>C"
          },
          "RefSeq": {
            "hgvs": "NP_057421.1:n.359-3119A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "A",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020234",
      "geneNCBI_id": 51466,
      "geneSymbol": "EVL",
      "hgvs": [
        "NM_001330221.2:c.353-3119A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317150.1:n.353-3119A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686815"
    }
  ],
  "type": "nucleotide"
}