{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397160636",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.3084C>G (p.Tyr1028Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675824[alleleid]",
        "alleleId": 1675824,
        "preferredName": "NM_013275.6(ANKRD11):c.3084C>G (p.Tyr1028Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683893",
        "RCV": [
          "RCV002244415"
        ],
        "variationId": 1683893
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89349866G>C?assembly=hg19",
        "id": "chr16:g.89349866G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89283458G>C?assembly=hg38",
        "id": "chr16:g.89283458G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793539",
        "rs": 1064793539
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89283458,
          "referenceAllele": "G",
          "start": 89283457
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89283458G>C",
        "CM000678.2:g.89283458G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89349866,
          "referenceAllele": "G",
          "start": 89349865
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89349866G>C",
        "CM000678.1:g.89349866G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87877367,
          "referenceAllele": "G",
          "start": 87877366
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87877367G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212104,
          "referenceAllele": "C",
          "start": 212103
        }
      ],
      "hgvs": [
        "NG_032003.1:g.212104C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212104,
          "referenceAllele": "C",
          "start": 212103
        }
      ],
      "hgvs": [
        "NG_032003.2:g.212104C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3545,
          "referenceAllele": "C",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.3084C>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.3084C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Tyr1028Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Tyr1028Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3397,
          "referenceAllele": "C",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*2887C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2887C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3375,
          "referenceAllele": "C",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.2709C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Tyr903Ter",
        "hgvsWellDefined": "ENSP00000493644.1:p.Tyr903Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 5070,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+5070C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+5070C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3545,
          "referenceAllele": "C",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3304,
          "referenceAllele": "C",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*2887C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2887C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3373,
          "referenceAllele": "C",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 5070,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+5070C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3616,
          "referenceAllele": "C",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3542,
          "referenceAllele": "C",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3545,
          "referenceAllele": "C",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3360,
          "referenceAllele": "C",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.2787C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Tyr929Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3602,
          "referenceAllele": "C",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3307,
          "referenceAllele": "C",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3740,
          "referenceAllele": "C",
          "start": 3739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3655,
          "referenceAllele": "C",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.2955C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Tyr985Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3557,
          "referenceAllele": "C",
          "start": 3556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3625,
          "referenceAllele": "C",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3910,
          "referenceAllele": "C",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.2955C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Tyr985Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4092,
          "referenceAllele": "C",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3714,
          "referenceAllele": "C",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3352,
          "referenceAllele": "C",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4088,
          "referenceAllele": "C",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3440,
          "referenceAllele": "C",
          "start": 3439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.2982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Tyr994Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3545,
          "referenceAllele": "C",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.3084C>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.3084C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Tyr1028Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Tyr1028Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3616,
          "referenceAllele": "C",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3542,
          "referenceAllele": "C",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.3084C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Tyr1028Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}