{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379326",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510952[alleleid]",
        "alleleId": 510952,
        "preferredName": "NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/518826",
        "RCV": [
          "RCV000618045",
          "RCV000811104",
          "RCV001194450",
          "RCV001834964",
          "RCV002477343"
        ],
        "variationId": 518826
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32482747-G-A",
        "id": "X-32482747-G-A",
        "variant": "X:32482747 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32482747G>A?assembly=hg19",
        "id": "chrX:g.32482747G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32464630G>A?assembly=hg38",
        "id": "chrX:g.32464630G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375329908",
        "rs": 375329908
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32482747-G-A?dataset=gnomad_r2_1",
        "id": "X-32482747-G-A",
        "variant": "X:32482747 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32464630-G-A?dataset=gnomad_r3",
        "id": "X-32464630-G-A",
        "variant": "X:32464630 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32464630-G-A?dataset=gnomad_r4",
        "id": "X-32464630-G-A",
        "variant": "X:32464630 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32464630,
          "referenceAllele": "G",
          "start": 32464629
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32464630G>A",
        "CM000685.2:g.32464630G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32482747,
          "referenceAllele": "G",
          "start": 32482746
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32482747G>A",
        "CM000685.1:g.32482747G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32392668,
          "referenceAllele": "G",
          "start": 32392667
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32392668G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879980,
          "referenceAllele": "C",
          "start": 879979
        }
      ],
      "hgvs": [
        "NG_012232.1:g.879980C>T",
        "LRG_199:g.879980C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3439,
          "referenceAllele": "C",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.3439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3469,
          "referenceAllele": "C",
          "start": 3468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu1078Phe",
        "hgvsWellDefined": "ENSP00000354923.3:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu1078Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu1078Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3439,
          "referenceAllele": "C",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu1078Phe",
        "hgvsWellDefined": "ENSP00000354923.3:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3415,
          "referenceAllele": "C",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.3220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Leu1074Phe",
        "hgvsWellDefined": "ENSP00000367948.2:p.Leu1074Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 99430,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 99431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-99431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-99431C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 99919,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 99920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-99920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-99920C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 247566,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 247567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-247567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3220,
          "referenceAllele": "C",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.3220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Leu1074Phe",
        "hgvsWellDefined": "ENSP00000479270.1:p.Leu1074Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3232,
          "referenceAllele": "C",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Leu1078Phe",
        "hgvsWellDefined": "ENSP00000478150.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "C",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.3208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Leu1070Phe",
        "hgvsWellDefined": "NP_000100.2:p.Leu1070Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812945",
      "coordinates": [
        {
          "allele": "T",
          "end": 3476,
          "referenceAllele": "C",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.3232C>T",
        "LRG_199t1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Leu1078Phe",
        "hgvsWellDefined": "NP_003997.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829490727",
      "coordinates": [
        {
          "allele": "T",
          "end": 3483,
          "referenceAllele": "C",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.3220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Leu1074Phe",
        "hgvsWellDefined": "NP_004000.1:p.Leu1074Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001307",
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "referenceAllele": "C",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.2863C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Leu955Phe",
        "hgvsWellDefined": "NP_004001.1:p.Leu955Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724531.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3311,
          "referenceAllele": "C",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.3208C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu1070Phe",
        "hgvsWellDefined": "XP_006724532.1:p.Leu1070Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724533.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724534.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3300,
          "referenceAllele": "C",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.3103C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Leu1035Phe",
        "hgvsWellDefined": "XP_006724535.1:p.Leu1035Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724536.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724537.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724538.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_011543769.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_011543770.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_011543771.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "referenceAllele": "C",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.3208C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu1070Phe",
        "hgvsWellDefined": "XP_006724532.1:p.Leu1070Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724533.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_006724537.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_011543770.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_016884817.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_016884818.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Leu1078Phe",
        "hgvsWellDefined": "XP_016884819.1:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825072192",
      "coordinates": [
        {
          "allele": "T",
          "end": 3331,
          "referenceAllele": "C",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.3208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Leu1070Phe",
        "hgvsWellDefined": "NP_000100.3:p.Leu1070Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829483659",
      "coordinates": [
        {
          "allele": "T",
          "end": 3469,
          "referenceAllele": "C",
          "start": 3468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.3232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Leu1078Phe",
        "hgvsWellDefined": "NP_003997.2:p.Leu1078Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu1078Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu1078Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}