{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397156892",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=985763[alleleid]",
        "alleleId": 985763,
        "preferredName": "NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/998039",
        "RCV": [
          "RCV001293721",
          "RCV003442825"
        ],
        "variationId": 998039
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89348200C>A?assembly=hg19",
        "id": "chr16:g.89348200C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89281792C>A?assembly=hg38",
        "id": "chr16:g.89281792C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2034272227",
        "rs": 2034272227
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89281792,
          "referenceAllele": "C",
          "start": 89281791
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89281792C>A",
        "CM000678.2:g.89281792C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89348200,
          "referenceAllele": "C",
          "start": 89348199
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89348200C>A",
        "CM000678.1:g.89348200C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87875701,
          "referenceAllele": "C",
          "start": 87875700
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87875701C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213770,
          "referenceAllele": "G",
          "start": 213769
        }
      ],
      "hgvs": [
        "NG_032003.1:g.213770G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213770,
          "referenceAllele": "G",
          "start": 213769
        }
      ],
      "hgvs": [
        "NG_032003.2:g.213770G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5211,
          "referenceAllele": "G",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.4750G>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.4750G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Glu1584Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Glu1584Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5063,
          "referenceAllele": "G",
          "start": 5062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*4553G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*4553G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "G",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5126,
          "referenceAllele": "G",
          "start": 5125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 6600,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 6601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-6601G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-6601G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5211,
          "referenceAllele": "G",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4970,
          "referenceAllele": "G",
          "start": 4969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*4553G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*4553G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5039,
          "referenceAllele": "G",
          "start": 5038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 6600,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 6601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-6601G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5282,
          "referenceAllele": "G",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5208,
          "referenceAllele": "G",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5211,
          "referenceAllele": "G",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4988,
          "referenceAllele": "G",
          "start": 4987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5026,
          "referenceAllele": "G",
          "start": 5025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.4453G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Glu1485Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5268,
          "referenceAllele": "G",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4973,
          "referenceAllele": "G",
          "start": 4972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5406,
          "referenceAllele": "G",
          "start": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5321,
          "referenceAllele": "G",
          "start": 5320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5594,
          "referenceAllele": "G",
          "start": 5593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5343,
          "referenceAllele": "G",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.4621G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Glu1541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5223,
          "referenceAllele": "G",
          "start": 5222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5272,
          "referenceAllele": "G",
          "start": 5271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5291,
          "referenceAllele": "G",
          "start": 5290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5576,
          "referenceAllele": "G",
          "start": 5575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5313,
          "referenceAllele": "G",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.4621G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Glu1541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5194,
          "referenceAllele": "G",
          "start": 5193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5758,
          "referenceAllele": "G",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5380,
          "referenceAllele": "G",
          "start": 5379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5018,
          "referenceAllele": "G",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5754,
          "referenceAllele": "G",
          "start": 5753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5106,
          "referenceAllele": "G",
          "start": 5105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5288,
          "referenceAllele": "G",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.4648G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Glu1550Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5211,
          "referenceAllele": "G",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.4750G>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.4750G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Glu1584Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Glu1584Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5282,
          "referenceAllele": "G",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5208,
          "referenceAllele": "G",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.4750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Glu1584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}