{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4958455",
  "communityStandardTitle": [
    "NM_203447.4(DOCK8):c.2971-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5884861",
        "active": true,
        "id": "COSM5884861"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5884862",
        "active": true,
        "id": "COSM5884862"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=371307[alleleid]",
        "alleleId": 371307,
        "preferredName": "NM_203447.4(DOCK8):c.2971-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379134",
        "RCV": [
          "RCV000431039",
          "RCV003595961"
        ],
        "variationId": 379134
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-396784-G-A",
        "id": "9-396784-G-A",
        "variant": "9:396784 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.396784G>A?assembly=hg19",
        "id": "chr9:g.396784G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.396784G>A?assembly=hg38",
        "id": "chr9:g.396784G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777066716",
        "rs": 777066716
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-396784-G-A?dataset=gnomad_r2_1",
        "id": "9-396784-G-A",
        "variant": "9:396784 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-396784-G-A?dataset=gnomad_r3",
        "id": "9-396784-G-A",
        "variant": "9:396784 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-396784-G-A?dataset=gnomad_r4",
        "id": "9-396784-G-A",
        "variant": "9:396784 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 396784,
          "referenceAllele": "G",
          "start": 396783
        }
      ],
      "hgvs": [
        "NC_000009.12:g.396784G>A",
        "CM000671.2:g.396784G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 396784,
          "referenceAllele": "G",
          "start": 396783
        }
      ],
      "hgvs": [
        "NC_000009.11:g.396784G>A",
        "CM000671.1:g.396784G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 386784,
          "referenceAllele": "G",
          "start": 386783
        }
      ],
      "hgvs": [
        "NC_000009.10:g.386784G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186920,
          "referenceAllele": "G",
          "start": 186919
        }
      ],
      "hgvs": [
        "NG_017007.1:g.186920G>A",
        "LRG_196:g.186920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003365"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3067,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.2:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.2:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382331.6:n.1468-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2866,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2866,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000682260.1:n.2867-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1758,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000685949.1:n.1759-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3082,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.7:c.2971-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:n.2971-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.2971-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.2971-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:n.2971-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:n.2971-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1758,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.1:c.1372-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.1:n.1372-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382331.5:c.877-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371768.1:n.877-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3082,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.6:c.2971-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:n.2971-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2867,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2867,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000453981.5:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408464.2:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2749,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2749,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000469391.5:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419438.1:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4925,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 4925,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000495184.5:n.4926-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2771,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2771,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.1:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2867,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2867,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.1:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3082,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.3:c.2971-1G>A",
        "LRG_196t1:c.2971-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:n.2971-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2821,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2821,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.1:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2980,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2980,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.1:c.2833-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:n.2833-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3224,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3224,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.1:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2907,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2907,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.1:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1642,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.1:c.1207-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:n.1207-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.3:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2980,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2980,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.2:c.2833-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:n.2833-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3031,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3031,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.3:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2902,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2902,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.2:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1642,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.2:c.1207-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:n.1207-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3017,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3017,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.2833-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:n.2833-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2773,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.2671-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:n.2671-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2869,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2869,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.2767-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:n.2767-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3082,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.2971-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:n.2971-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.2971-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.2971-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:n.2971-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:n.2971-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}