{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401460499",
  "communityStandardTitle": [
    "NM_001614.5(ACTG1):c.600C>G (p.Phe200Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.79478416G>C?assembly=hg19",
        "id": "chr17:g.79478416G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.81511390G>C?assembly=hg38",
        "id": "chr17:g.81511390G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782058647",
        "rs": 782058647
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-81511390-G-C?dataset=gnomad_r4",
        "id": "17-81511390-G-C",
        "variant": "17:81511390 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 81511390,
          "referenceAllele": "G",
          "start": 81511389
        }
      ],
      "hgvs": [
        "NC_000017.11:g.81511390G>C",
        "CM000679.2:g.81511390G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 79478416,
          "referenceAllele": "G",
          "start": 79478415
        }
      ],
      "hgvs": [
        "NC_000017.10:g.79478416G>C",
        "CM000679.1:g.79478416G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 77093011,
          "referenceAllele": "G",
          "start": 77093010
        }
      ],
      "hgvs": [
        "NC_000017.9:g.77093011G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6412,
          "referenceAllele": "C",
          "start": 6411
        }
      ],
      "hgvs": [
        "NG_011433.1:g.6412C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001711"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000570382.2:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466346.2:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000466346.2:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571691.6:c.528C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461407.2:p.Phe176Leu",
        "hgvsWellDefined": "ENSP00000461407.2:p.Phe176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571721.6:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460660.2:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000460660.2:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000572105.7:c.*44C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462823.1:n.*44C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000573283.7:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458435.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000458435.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000573283.7:c.600C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001614.5:c.600C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000458435.1:p.Phe200Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001605.1:p.Phe200Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000574671.6:n.1000C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575659.6:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459119.2:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000459119.2:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575994.6:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460464.2:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000460464.2:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576214.3:n.901C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576544.6:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461672.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000461672.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000615544.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477968.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000477968.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000644774.2:c.573C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493648.2:p.Phe191Leu",
        "hgvsWellDefined": "ENSP00000493648.2:p.Phe191Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679410.1:n.724C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679480.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506201.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000506201.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679535.1:n.901C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679778.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505235.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000505235.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000680227.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506253.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000506253.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000680727.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505193.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000505193.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681052.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505060.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000505060.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681092.1:c.*404C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506720.1:n.*404C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681842.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506126.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000506126.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000331925.6:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331514.2:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000331514.2:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571691.5:c.573C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461407.1:p.Phe191Leu",
        "hgvsWellDefined": "ENSP00000461407.1:p.Phe191Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "C",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000572105.6:c.*44C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462823.1:n.*44C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000573283.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458435.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000458435.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000574671.5:n.459C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575087.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459124.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000459124.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575659.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459119.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000459119.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575842.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458162.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000458162.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575994.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460464.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000460464.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576209.5:n.485C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576214.2:n.798C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576544.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461672.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000461672.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576917.5:n.653C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000615544.4:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477968.1:p.Phe200Leu",
        "hgvsWellDefined": "ENSP00000477968.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.1:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001186883.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084140580",
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.3:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001605.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.1:n.739C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.2:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001186883.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084140580",
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.4:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001605.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.2:n.672C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084140580",
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.5:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001605.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000573283.7:c.600C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001614.5:c.600C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000458435.1:p.Phe200Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001605.1:p.Phe200Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.3:n.672C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.3:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Phe200Leu",
        "hgvsWellDefined": "NP_001186883.1:p.Phe200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714045"
    }
  ],
  "type": "nucleotide"
}