{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6674682",
  "communityStandardTitle": [
    "NM_001366722.1(GRIP1):c.345C>T (p.Asp115=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326472[alleleid]",
        "alleleId": 326472,
        "preferredName": "NM_001366722.1(GRIP1):c.345C>T (p.Asp115=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310313",
        "RCV": [
          "RCV000325698",
          "RCV002520833"
        ],
        "variationId": 310313
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-66932931-G-A",
        "id": "12-66932931-G-A",
        "variant": "12:66932931 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.66932931G>A?assembly=hg19",
        "id": "chr12:g.66932931G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.66539151G>A?assembly=hg38",
        "id": "chr12:g.66539151G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760613522",
        "rs": 760613522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-66932931-G-A?dataset=gnomad_r2_1",
        "id": "12-66932931-G-A",
        "variant": "12:66932931 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-66539151-G-A?dataset=gnomad_r3",
        "id": "12-66539151-G-A",
        "variant": "12:66539151 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-66539151-G-A?dataset=gnomad_r4",
        "id": "12-66539151-G-A",
        "variant": "12:66539151 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 66539151,
          "referenceAllele": "G",
          "start": 66539150
        }
      ],
      "hgvs": [
        "NC_000012.12:g.66539151G>A",
        "CM000674.2:g.66539151G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 66932931,
          "referenceAllele": "G",
          "start": 66932930
        }
      ],
      "hgvs": [
        "NC_000012.11:g.66932931G>A",
        "CM000674.1:g.66932931G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 65219198,
          "referenceAllele": "G",
          "start": 65219197
        }
      ],
      "hgvs": [
        "NC_000012.10:g.65219198G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144995,
          "referenceAllele": "C",
          "start": 144994
        }
      ],
      "hgvs": [
        "NG_021400.1:g.144995C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535115,
          "referenceAllele": "C",
          "start": 535114
        }
      ],
      "hgvs": [
        "NG_021400.2:g.535115C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000696989.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513025.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000359742.9:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352780.4:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749234",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359742.9:c.345C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001366722.1:c.345C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352780.4:p.Asp115="
          },
          "RefSeq": {
            "hgvs": "NP_001353651.1:p.Asp115="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000359742.8:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352780.4:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000398016.7:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381098.3:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000536215.5:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446011.1:p.Asp59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000538211.5:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446047.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "referenceAllele": "C",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000539540.5:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443392.1:p.Asp59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000540433.5:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446024.1:p.Asp59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000541947.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438921.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000542309.5:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438500.1:p.Asp59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000545666.5:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439124.2:p.Asp88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826136563",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001178074.1:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171545.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829967985",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_021150.3:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066973.2:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268754.3:c.348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268811.1:p.Asp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268757.3:c.267C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268814.1:p.Asp89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538089.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536391.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538090.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536392.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538091.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536393.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538092.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536394.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538093.1:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536395.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538094.1:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536396.1:p.Asp59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828217759",
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366722.1:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353651.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359742.9:c.345C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001366722.1:c.345C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352780.4:p.Asp115="
          },
          "RefSeq": {
            "hgvs": "NP_001353651.1:p.Asp115="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828218101",
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366723.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353652.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828218467",
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366724.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353653.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268754.4:c.348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268811.1:p.Asp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268757.4:c.267C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268814.1:p.Asp89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019098.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874587.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3514,
          "referenceAllele": "C",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019099.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874588.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019100.1:c.570C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874589.1:p.Asp190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826136563",
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001178074.2:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171545.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829967985",
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_021150.4:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066973.2:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379345.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366274.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379346.1:c.345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366275.1:p.Asp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379347.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366276.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379348.1:c.423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366277.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379349.1:c.348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366278.1:p.Asp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379351.1:c.348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366280.1:p.Asp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721972"
    }
  ],
  "type": "nucleotide"
}