{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10584075",
  "communityStandardTitle": [
    "NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244150[alleleid]",
        "alleleId": 244150,
        "preferredName": "NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/243067",
        "RCV": [
          "RCV000235085"
        ],
        "variationId": 243067
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.12067183G>C?assembly=hg19",
        "id": "chr1:g.12067183G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.12007126G>C?assembly=hg38",
        "id": "chr1:g.12007126G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763492075",
        "rs": 763492075
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 12007126,
          "referenceAllele": "G",
          "start": 12007125
        }
      ],
      "hgvs": [
        "NC_000001.11:g.12007126G>C",
        "CM000663.2:g.12007126G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 12067183,
          "referenceAllele": "G",
          "start": 12067182
        }
      ],
      "hgvs": [
        "NC_000001.10:g.12067183G>C",
        "CM000663.1:g.12067183G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11989770,
          "referenceAllele": "G",
          "start": 11989769
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11989770G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31946,
          "referenceAllele": "G",
          "start": 31945
        }
      ],
      "hgvs": [
        "NG_007945.1:g.31946G>C",
        "LRG_255:g.31946G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000713"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000235329.10:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000235329.5:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000235329.5:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740970",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000235329.10:c.1946G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014874.4:c.1946G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000235329.5:p.Arg649Pro"
          },
          "RefSeq": {
            "hgvs": "NP_055689.1:p.Arg649Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000674548.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502185.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502185.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2057,
          "referenceAllele": "G",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000674658.1:c.1601G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502334.1:p.Arg534Pro",
        "hgvsWellDefined": "ENSP00000502334.1:p.Arg534Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000674817.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502151.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502151.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2276,
          "referenceAllele": "G",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000674910.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501716.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000501716.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675053.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501646.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000501646.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675113.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502623.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502623.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2509,
          "referenceAllele": "G",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675231.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502404.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502404.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675298.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501839.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000501839.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675404.1:n.2181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "G",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675483.1:n.2074G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "G",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675512.1:c.*1948G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502630.1:n.*1948G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675528.1:n.1437G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675817.1:c.2078G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502422.1:p.Arg693Pro",
        "hgvsWellDefined": "ENSP00000502422.1:p.Arg693Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2306,
          "referenceAllele": "G",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675872.1:n.2306G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675919.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501776.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000501776.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675959.1:n.2452G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000675987.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502145.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502145.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "referenceAllele": "G",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000676293.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502362.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000502362.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000676295.1:n.359G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2089,
          "referenceAllele": "G",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000676426.1:c.*946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502359.1:n.*946G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000235329.9:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000235329.5:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000235329.5:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "ENST00000444836.5:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416338.1:p.Arg649Pro",
        "hgvsWellDefined": "ENSP00000416338.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825649694",
      "coordinates": [
        {
          "allele": "C",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NM_001127660.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121132.1:p.Arg649Pro",
        "hgvsWellDefined": "NP_001121132.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407430",
      "coordinates": [
        {
          "allele": "C",
          "end": 2399,
          "referenceAllele": "G",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NM_014874.3:c.1946G>C",
        "LRG_255t1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055689.1:p.Arg649Pro",
        "hgvsWellDefined": "NP_055689.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2412,
          "referenceAllele": "G",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263543.2:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263600.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263600.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263545.2:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263602.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263602.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "G",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263547.2:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263604.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263604.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263548.2:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263605.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263605.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2412,
          "referenceAllele": "G",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263543.3:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263600.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263600.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263545.3:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263602.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263602.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "G",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263547.3:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263604.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263604.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_005263548.3:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263605.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_005263605.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2507,
          "referenceAllele": "G",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "XM_024451299.1:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307067.1:p.Arg649Pro",
        "hgvsWellDefined": "XP_024307067.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407430",
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NM_014874.4:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055689.1:p.Arg649Pro",
        "hgvsWellDefined": "NP_055689.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000235329.10:c.1946G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014874.4:c.1946G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000235329.5:p.Arg649Pro"
          },
          "RefSeq": {
            "hgvs": "NP_055689.1:p.Arg649Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825649694",
      "coordinates": [
        {
          "allele": "C",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NM_001127660.2:c.1946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121132.1:p.Arg649Pro",
        "hgvsWellDefined": "NP_001121132.1:p.Arg649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712223"
    }
  ],
  "type": "nucleotide"
}