{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA308391",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.3937A>G (p.Met1313Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198580[alleleid]",
        "alleleId": 198580,
        "preferredName": "NM_004006.3(DMD):c.3937A>G (p.Met1313Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201748",
        "RCV": [
          "RCV000183411",
          "RCV001827986",
          "RCV001852354"
        ],
        "variationId": 201748
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32456492T>C?assembly=hg19",
        "id": "chrX:g.32456492T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32438375T>C?assembly=hg38",
        "id": "chrX:g.32438375T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729003",
        "rs": 794729003
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32456492-T-C?dataset=gnomad_r2_1",
        "id": "X-32456492-T-C",
        "variant": "X:32456492 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32438375-T-C?dataset=gnomad_r3",
        "id": "X-32438375-T-C",
        "variant": "X:32438375 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32438375-T-C?dataset=gnomad_r4",
        "id": "X-32438375-T-C",
        "variant": "X:32438375 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32438375,
          "referenceAllele": "T",
          "start": 32438374
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32438375T>C",
        "CM000685.2:g.32438375T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32456492,
          "referenceAllele": "T",
          "start": 32456491
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32456492T>C",
        "CM000685.1:g.32456492T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32366413,
          "referenceAllele": "T",
          "start": 32366412
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32366413T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906235,
          "referenceAllele": "A",
          "start": 906234
        }
      ],
      "hgvs": [
        "NG_012232.1:g.906235A>G",
        "LRG_199:g.906235A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4174,
          "referenceAllele": "A",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Met1313Val",
        "hgvsWellDefined": "ENSP00000354923.3:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3937A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3937A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Met1313Val"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Met1313Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4144,
          "referenceAllele": "A",
          "start": 4143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Met1313Val",
        "hgvsWellDefined": "ENSP00000354923.3:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4120,
          "referenceAllele": "A",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.3925A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Met1309Val",
        "hgvsWellDefined": "ENSP00000367948.2:p.Met1309Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 73175,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 73176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-73176A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-73176A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 73664,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 73665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-73665A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-73665A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 221311,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 221312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-221312A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3925,
          "referenceAllele": "A",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.3925A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Met1309Val",
        "hgvsWellDefined": "ENSP00000479270.1:p.Met1309Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3937,
          "referenceAllele": "A",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Met1313Val",
        "hgvsWellDefined": "ENSP00000478150.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4257,
          "referenceAllele": "A",
          "start": 4256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.3913A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Met1305Val",
        "hgvsWellDefined": "NP_000100.2:p.Met1305Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA308393",
      "coordinates": [
        {
          "allele": "G",
          "end": 4181,
          "referenceAllele": "A",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.3937A>G",
        "LRG_199t1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Met1313Val",
        "hgvsWellDefined": "NP_003997.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491126",
      "coordinates": [
        {
          "allele": "G",
          "end": 4188,
          "referenceAllele": "A",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.3925A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Met1309Val",
        "hgvsWellDefined": "NP_004000.1:p.Met1309Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829496761",
      "coordinates": [
        {
          "allele": "G",
          "end": 4271,
          "referenceAllele": "A",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.3568A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Met1190Val",
        "hgvsWellDefined": "NP_004001.1:p.Met1190Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724531.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4016,
          "referenceAllele": "A",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.3913A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Met1305Val",
        "hgvsWellDefined": "XP_006724532.1:p.Met1305Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724533.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724534.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4005,
          "referenceAllele": "A",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.3808A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Met1270Val",
        "hgvsWellDefined": "XP_006724535.1:p.Met1270Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724536.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724537.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724538.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Met1313Val",
        "hgvsWellDefined": "XP_011543769.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Met1313Val",
        "hgvsWellDefined": "XP_011543770.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Met1313Val",
        "hgvsWellDefined": "XP_011543771.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4108,
          "referenceAllele": "A",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.3913A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Met1305Val",
        "hgvsWellDefined": "XP_006724532.1:p.Met1305Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724533.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Met1313Val",
        "hgvsWellDefined": "XP_006724537.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Met1313Val",
        "hgvsWellDefined": "XP_011543770.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Met1313Val",
        "hgvsWellDefined": "XP_016884817.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Met1313Val",
        "hgvsWellDefined": "XP_016884818.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Met1313Val",
        "hgvsWellDefined": "XP_016884819.1:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825072512",
      "coordinates": [
        {
          "allele": "G",
          "end": 4036,
          "referenceAllele": "A",
          "start": 4035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.3913A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Met1305Val",
        "hgvsWellDefined": "NP_000100.3:p.Met1305Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573083939",
      "coordinates": [
        {
          "allele": "G",
          "end": 4174,
          "referenceAllele": "A",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.3937A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Met1313Val",
        "hgvsWellDefined": "NP_003997.2:p.Met1313Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3937A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3937A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Met1313Val"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Met1313Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}