{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379626",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2166A>G (p.Lys722=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380047[alleleid]",
        "alleleId": 380047,
        "preferredName": "NM_004006.3(DMD):c.2166A>G (p.Lys722=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390872",
        "RCV": [
          "RCV000727475",
          "RCV001081043",
          "RCV001828443",
          "RCV002429442"
        ],
        "variationId": 390872
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32563278-T-C",
        "id": "X-32563278-T-C",
        "variant": "X:32563278 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32563278T>C?assembly=hg19",
        "id": "chrX:g.32563278T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32545161T>C?assembly=hg38",
        "id": "chrX:g.32545161T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147580966",
        "rs": 147580966
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32563278-T-C?dataset=gnomad_r2_1",
        "id": "X-32563278-T-C",
        "variant": "X:32563278 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32545161-T-C?dataset=gnomad_r3",
        "id": "X-32545161-T-C",
        "variant": "X:32545161 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32545161-T-C?dataset=gnomad_r4",
        "id": "X-32545161-T-C",
        "variant": "X:32545161 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32545161,
          "referenceAllele": "T",
          "start": 32545160
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32545161T>C",
        "CM000685.2:g.32545161T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32563278,
          "referenceAllele": "T",
          "start": 32563277
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32563278T>C",
        "CM000685.1:g.32563278T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32473199,
          "referenceAllele": "T",
          "start": 32473198
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32473199T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799449,
          "referenceAllele": "A",
          "start": 799448
        }
      ],
      "hgvs": [
        "NG_012232.1:g.799449A>G",
        "LRG_199:g.799449A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2373A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2373A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2486,
          "referenceAllele": "A",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2403,
          "referenceAllele": "A",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2166A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2166A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Lys722="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Lys722="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "A",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2154A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Lys718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 179961,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 179962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-179962A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-179962A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 180450,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 180451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-180451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-180451A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 328097,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 328098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-328098A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2154,
          "referenceAllele": "A",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2154A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Lys718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2166,
          "referenceAllele": "A",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2486,
          "referenceAllele": "A",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2410,
          "referenceAllele": "A",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2166A>G",
        "LRG_199t1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489972",
      "coordinates": [
        {
          "allele": "G",
          "end": 2417,
          "referenceAllele": "A",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Lys718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829495619",
      "coordinates": [
        {
          "allele": "G",
          "end": 2500,
          "referenceAllele": "A",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.1797A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Lys599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "A",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2234,
          "referenceAllele": "A",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2037A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Lys679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2337,
          "referenceAllele": "A",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071626",
      "coordinates": [
        {
          "allele": "G",
          "end": 2265,
          "referenceAllele": "A",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Lys714="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829483079",
      "coordinates": [
        {
          "allele": "G",
          "end": 2403,
          "referenceAllele": "A",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Lys722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2166A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2166A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Lys722="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Lys722="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}