{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14677083",
  "communityStandardTitle": [
    "NM_000164.4(GIPR):c.1152+820T>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46182304T>A?assembly=hg19",
        "id": "chr19:g.46182304T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45679046T>A?assembly=hg38",
        "id": "chr19:g.45679046T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10423928",
        "rs": 10423928
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46182304-T-A?dataset=gnomad_r2_1",
        "id": "19-46182304-T-A",
        "variant": "19:46182304 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45679046-T-A?dataset=gnomad_r3",
        "id": "19-45679046-T-A",
        "variant": "19:45679046 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45679046-T-A?dataset=gnomad_r4",
        "id": "19-45679046-T-A",
        "variant": "19:45679046 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45679046,
          "referenceAllele": "T",
          "start": 45679045
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45679046T>A",
        "CM000681.2:g.45679046T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46182304,
          "referenceAllele": "T",
          "start": 46182303
        }
      ],
      "hgvs": [
        "NC_000019.9:g.46182304T>A",
        "CM000681.1:g.46182304T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50874144,
          "referenceAllele": "T",
          "start": 50874143
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50874144T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1274,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000590918.6:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467494.1:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000590918.6:c.1152+820T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000164.4:c.1152+820T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467494.1:n.1152+820T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000155.1:n.1152+820T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000652180.1:c.969+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498426.1:n.969+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1239,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000263281.7:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263281.3:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000304207.12:c.1044+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305321.8:n.1044+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1107,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000585889.1:c.*223+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467342.1:n.*223+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "ENST00000590918.5:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467494.1:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "NM_000164.2:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000155.1:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "NM_000164.3:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000155.1:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1143,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "NM_001308418.1:c.1044+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295347.1:n.1044+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1428,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526709.1:c.1278+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525011.1:n.1278+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1509,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526710.1:c.1278+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525012.1:n.1278+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526711.1:c.1170+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525013.1:n.1170+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1194,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526712.1:c.1044+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525014.1:n.1044+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526713.1:c.1029+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525015.1:n.1029+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1104,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526714.1:c.861+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525016.1:n.861+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1114,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526715.1:c.861+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525017.1:n.861+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1171,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XR_935791.1:n.1171+820T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1434,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526709.2:c.1278+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525011.1:n.1278+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1515,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526710.2:c.1278+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525012.1:n.1278+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526711.2:c.1170+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525013.1:n.1170+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1185,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526713.2:c.1029+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525015.1:n.1029+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1110,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526714.2:c.861+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525016.1:n.861+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1120,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_011526715.2:c.861+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525017.1:n.861+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_017026584.1:c.807+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882073.1:n.807+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_017026585.1:c.786+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882074.1:n.786+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 758,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_017026586.1:c.663+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882075.1:n.663+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XM_017026587.1:c.660+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882076.1:n.660+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1247,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XR_001753655.1:n.1247+820T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "XR_935791.2:n.1177+820T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1274,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "NM_000164.4:c.1152+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000155.1:n.1152+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000590918.6:c.1152+820T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000164.4:c.1152+820T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467494.1:n.1152+820T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000155.1:n.1152+820T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "endIntronDirection": "+",
          "endIntronOffset": 820,
          "referenceAllele": "T",
          "start": 1166,
          "startIntronDirection": "+",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004271",
      "geneNCBI_id": 2696,
      "geneSymbol": "GIPR",
      "hgvs": [
        "NM_001308418.2:c.1044+820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295347.1:n.1044+820T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684024"
    }
  ],
  "type": "nucleotide"
}