{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16607875",
  "communityStandardTitle": [
    "NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376661[alleleid]",
        "alleleId": 376661,
        "preferredName": "NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392927",
        "RCV": [
          "RCV000444848"
        ],
        "variationId": 392927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.79478379T>G?assembly=hg19",
        "id": "chr17:g.79478379T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.81511353T>G?assembly=hg38",
        "id": "chr17:g.81511353T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524703",
        "rs": 1057524703
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 81511353,
          "referenceAllele": "T",
          "start": 81511352
        }
      ],
      "hgvs": [
        "NC_000017.11:g.81511353T>G",
        "CM000679.2:g.81511353T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 79478379,
          "referenceAllele": "T",
          "start": 79478378
        }
      ],
      "hgvs": [
        "NC_000017.10:g.79478379T>G",
        "CM000679.1:g.79478379T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 77092974,
          "referenceAllele": "T",
          "start": 77092973
        }
      ],
      "hgvs": [
        "NC_000017.9:g.77092974T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6449,
          "referenceAllele": "A",
          "start": 6448
        }
      ],
      "hgvs": [
        "NG_011433.1:g.6449A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001711"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000570382.2:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466346.2:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000466346.2:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571691.6:c.565A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461407.2:p.Lys189Gln",
        "hgvsWellDefined": "ENSP00000461407.2:p.Lys189Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571721.6:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460660.2:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000460660.2:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000572105.7:c.*81A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462823.1:n.*81A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000573283.7:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458435.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000458435.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000573283.7:c.637A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001614.5:c.637A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000458435.1:p.Lys213Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001605.1:p.Lys213Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000574671.6:n.1037A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575659.6:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459119.2:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000459119.2:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575994.6:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460464.2:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000460464.2:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576214.3:n.938A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576544.6:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461672.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000461672.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000615544.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477968.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000477968.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000644774.2:c.610A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493648.2:p.Lys204Gln",
        "hgvsWellDefined": "ENSP00000493648.2:p.Lys204Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679410.1:n.761A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679480.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506201.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000506201.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679535.1:n.938A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000679778.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505235.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000505235.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000680227.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506253.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000506253.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 787,
          "referenceAllele": "A",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000680727.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505193.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000505193.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "A",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681052.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505060.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000505060.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "A",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681092.1:c.*441A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506720.1:n.*441A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "A",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000681842.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506126.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000506126.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000331925.6:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331514.2:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000331514.2:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000571691.5:c.610A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461407.1:p.Lys204Gln",
        "hgvsWellDefined": "ENSP00000461407.1:p.Lys204Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000572105.6:c.*81A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462823.1:n.*81A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000573283.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458435.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000458435.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000574671.5:n.496A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "A",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575087.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459124.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000459124.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575659.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459119.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000459119.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575842.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458162.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000458162.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000575994.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460464.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000460464.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576209.5:n.522A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "A",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576214.2:n.835A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576544.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461672.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000461672.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000576917.5:n.690A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 665,
          "referenceAllele": "A",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "ENST00000615544.4:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477968.1:p.Lys213Gln",
        "hgvsWellDefined": "ENSP00000477968.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826251145",
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "referenceAllele": "A",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.1:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001186883.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493324",
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "referenceAllele": "A",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.3:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001605.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "referenceAllele": "A",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.1:n.776A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826251145",
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "A",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.2:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001186883.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493324",
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.4:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001605.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.2:n.709A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493324",
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001614.5:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001605.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001605.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000573283.7:c.637A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001614.5:c.637A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000458435.1:p.Lys213Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001605.1:p.Lys213Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NR_037688.3:n.709A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826251145",
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "A",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000144",
      "geneNCBI_id": 71,
      "geneSymbol": "ACTG1",
      "hgvs": [
        "NM_001199954.3:c.637A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186883.1:p.Lys213Gln",
        "hgvsWellDefined": "NP_001186883.1:p.Lys213Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714045"
    }
  ],
  "type": "nucleotide"
}