{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9908848",
  "communityStandardTitle": [
    "NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671594[alleleid]",
        "alleleId": 1671594,
        "preferredName": "NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679675",
        "RCV": [
          "RCV002227699",
          "RCV003101299"
        ],
        "variationId": 1679675
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-49510589-A-C",
        "id": "20-49510589-A-C",
        "variant": "20:49510589 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49510589A>C?assembly=hg19",
        "id": "chr20:g.49510589A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.50894052A>C?assembly=hg38",
        "id": "chr20:g.50894052A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747105829",
        "rs": 747105829
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-49510589-A-C?dataset=gnomad_r2_1",
        "id": "20-49510589-A-C",
        "variant": "20:49510589 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-50894052-A-C?dataset=gnomad_r3",
        "id": "20-50894052-A-C",
        "variant": "20:50894052 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-50894052-A-C?dataset=gnomad_r4",
        "id": "20-50894052-A-C",
        "variant": "20:50894052 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 50894052,
          "referenceAllele": "A",
          "start": 50894051
        }
      ],
      "hgvs": [
        "NC_000020.11:g.50894052A>C",
        "CM000682.2:g.50894052A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 49510589,
          "referenceAllele": "A",
          "start": 49510588
        }
      ],
      "hgvs": [
        "NC_000020.10:g.49510589A>C",
        "CM000682.1:g.49510589A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 48943996,
          "referenceAllele": "A",
          "start": 48943995
        }
      ],
      "hgvs": [
        "NC_000020.9:g.48943996A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41939,
          "referenceAllele": "T",
          "start": 41938
        }
      ],
      "hgvs": [
        "NG_034200.1:g.41939T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.8:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000342905.3:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2224,
          "referenceAllele": "T",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.9:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000360662.2:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.8:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379346.3:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000379346.3:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396032.8:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000379349.2:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "referenceAllele": "T",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.5:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483881.1:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000483881.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762339",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.662T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.662T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Ile221Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Ile221Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 4094,
          "referenceAllele": "T",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 4095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000644386.1:c.202-4095T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493755.1:n.202-4095T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "T",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000645081.1:c.-23T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495540.1:n.-23T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000673732.1:c.878T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501294.1:p.Ile293Ser",
        "hgvsWellDefined": "ENSP00000501294.1:p.Ile293Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.7:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000342905.3:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.8:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000360662.2:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.7:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379346.3:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000379346.3:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "T",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396032.7:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000379349.2:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.4:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483881.1:p.Ile221Ser",
        "hgvsWellDefined": "ENSP00000483881.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001269460.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649569",
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001269461.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813497",
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "T",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.3:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_056154.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573310066",
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "T",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.2:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_852107.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "T",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Ile221Ser",
        "hgvsWellDefined": "XP_011527049.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.1:c.689T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Ile230Ser",
        "hgvsWellDefined": "XP_011527050.1:p.Ile230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.2:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001269460.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400000",
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001334440.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813497",
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "T",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.4:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_056154.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573310066",
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "T",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.3:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_852107.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.2:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Ile221Ser",
        "hgvsWellDefined": "XP_011527049.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "T",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.2:c.689T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Ile230Ser",
        "hgvsWellDefined": "XP_011527050.1:p.Ile230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027758.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883247.1:p.Ile221Ser",
        "hgvsWellDefined": "XP_016883247.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "T",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027759.1:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883248.1:p.Ile221Ser",
        "hgvsWellDefined": "XP_016883248.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "referenceAllele": "T",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.3:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001269460.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.662T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.662T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Ile221Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Ile221Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400000",
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "T",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.2:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001334440.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813497",
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.5:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_056154.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573310066",
      "coordinates": [
        {
          "allele": "G",
          "end": 1279,
          "referenceAllele": "T",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.4:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_852107.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649569",
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.2:c.662T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Ile221Ser",
        "hgvsWellDefined": "NP_001269461.1:p.Ile221Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715832"
    }
  ],
  "type": "nucleotide"
}