{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10642378",
  "communityStandardTitle": [
    "NM_001366722.1(GRIP1):c.240A>G (p.Val80=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5051883",
        "active": true,
        "id": "COSM5051883"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5051884",
        "active": true,
        "id": "COSM5051884"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=332734[alleleid]",
        "alleleId": 332734,
        "preferredName": "NM_001366722.1(GRIP1):c.240A>G (p.Val80=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310315",
        "RCV": [
          "RCV000276324",
          "RCV003698761"
        ],
        "variationId": 310315
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.66935627T>C?assembly=hg19",
        "id": "chr12:g.66935627T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.66541847T>C?assembly=hg38",
        "id": "chr12:g.66541847T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886049799",
        "rs": 886049799
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-66541847-T-C?dataset=gnomad_r4",
        "id": "12-66541847-T-C",
        "variant": "12:66541847 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 66541847,
          "referenceAllele": "T",
          "start": 66541846
        }
      ],
      "hgvs": [
        "NC_000012.12:g.66541847T>C",
        "CM000674.2:g.66541847T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 66935627,
          "referenceAllele": "T",
          "start": 66935626
        }
      ],
      "hgvs": [
        "NC_000012.11:g.66935627T>C",
        "CM000674.1:g.66935627T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 65221894,
          "referenceAllele": "T",
          "start": 65221893
        }
      ],
      "hgvs": [
        "NC_000012.10:g.65221894T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142299,
          "referenceAllele": "A",
          "start": 142298
        }
      ],
      "hgvs": [
        "NG_021400.1:g.142299A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532419,
          "referenceAllele": "A",
          "start": 532418
        }
      ],
      "hgvs": [
        "NG_021400.2:g.532419A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000696989.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513025.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000359742.9:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352780.4:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749234",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359742.9:c.240A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001366722.1:c.240A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352780.4:p.Val80="
          },
          "RefSeq": {
            "hgvs": "NP_001353651.1:p.Val80="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000359742.8:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352780.4:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "A",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000398016.7:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381098.3:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "A",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000536215.5:c.72A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446011.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000538211.5:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446047.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000539540.5:c.72A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443392.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "referenceAllele": "A",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000540433.5:c.72A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446024.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "referenceAllele": "A",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000541947.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438921.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000542309.5:c.72A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438500.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "A",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "ENST00000545666.5:c.159A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439124.2:p.Val53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826136558",
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001178074.1:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171545.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829967944",
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_021150.3:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066973.2:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "A",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268754.3:c.243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268811.1:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268757.3:c.162A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268814.1:p.Val54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538089.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536391.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538090.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536392.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538091.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536393.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538092.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536394.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "A",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538093.1:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536395.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_011538094.1:c.72A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536396.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828217754",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366722.1:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353651.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359742.9:c.240A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001366722.1:c.240A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352780.4:p.Val80="
          },
          "RefSeq": {
            "hgvs": "NP_001353651.1:p.Val80="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828218096",
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366723.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353652.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828218462",
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001366724.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353653.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268754.4:c.243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268811.1:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_005268757.4:c.162A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268814.1:p.Val54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019098.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874587.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3409,
          "referenceAllele": "A",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019099.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874588.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "XM_017019100.1:c.465A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874589.1:p.Val155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826136558",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001178074.2:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171545.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829967944",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_021150.4:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066973.2:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379345.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366274.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379346.1:c.240A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366275.1:p.Val80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379347.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366276.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379348.1:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366277.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "A",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379349.1:c.243A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366278.1:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "A",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018708",
      "geneNCBI_id": 23426,
      "geneSymbol": "GRIP1",
      "hgvs": [
        "NM_001379351.1:c.243A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366280.1:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721972"
    }
  ],
  "type": "nucleotide"
}