{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128484",
  "communityStandardTitle": [
    "NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38551[alleleid]",
        "alleleId": 38551,
        "preferredName": "NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29597",
        "RCV": [
          "RCV000022434"
        ],
        "variationId": 29597
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.158630638C>A?assembly=hg19",
        "id": "chr2:g.158630638C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.157774126C>A?assembly=hg38",
        "id": "chr2:g.157774126C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906591",
        "rs": 387906591
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 157774126,
          "referenceAllele": "C",
          "start": 157774125
        }
      ],
      "hgvs": [
        "NC_000002.12:g.157774126C>A",
        "CM000664.2:g.157774126C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 158630638,
          "referenceAllele": "C",
          "start": 158630637
        }
      ],
      "hgvs": [
        "NC_000002.11:g.158630638C>A",
        "CM000664.1:g.158630638C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 158338884,
          "referenceAllele": "C",
          "start": 158338883
        }
      ],
      "hgvs": [
        "NC_000002.10:g.158338884C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105986,
          "referenceAllele": "G",
          "start": 105985
        }
      ],
      "hgvs": [
        "NG_008004.1:g.105986G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000768"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000682025.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507086.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507086.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000682300.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507102.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507102.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000682690.1:n.622G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000683404.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506824.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000506824.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000683426.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507597.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507597.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000683441.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508189.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000508189.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000683487.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507113.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507113.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000683820.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507727.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507727.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000684348.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508136.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000508136.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000684595.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507730.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000507730.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000424669.6:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400767.2:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000400767.2:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000434821.7:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405004.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000405004.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000434821.7:c.605G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001111067.4:c.605G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000405004.1:p.Arg202Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001104537.1:p.Arg202Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000539637.6:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440091.2:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000440091.2:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000672582.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500605.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000500605.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000673324.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500109.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000500109.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000263640.7:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263640.3:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000263640.3:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000409283.6:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387273.2:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000387273.2:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000410057.6:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387127.2:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000387127.2:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "ENST00000434821.5:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405004.1:p.Arg202Ile",
        "hgvsWellDefined": "ENSP00000405004.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099961",
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001105.4:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001096.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825560862",
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001111067.2:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104537.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001104537.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_005246939.2:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246996.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_005246996.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_005246940.2:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246997.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_005246997.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_006712825.2:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712888.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_006712888.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_011512106.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510408.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_011510408.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_011512107.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510409.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_011510409.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_011512108.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510410.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_011510410.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400911",
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347663.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334592.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334592.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827401119",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347664.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334593.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334593.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827401328",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347665.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334594.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334594.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827401537",
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347666.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334595.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334595.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029119",
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347667.1:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334596.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334596.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_006712825.4:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712888.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_006712888.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2332,
          "referenceAllele": "G",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "XM_011512108.3:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510410.1:p.Arg202Ile",
        "hgvsWellDefined": "XP_011510410.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099961",
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001105.5:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001096.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825560862",
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001111067.4:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104537.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001104537.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000434821.7:c.605G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001111067.4:c.605G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000405004.1:p.Arg202Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001104537.1:p.Arg202Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029119",
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001347667.2:c.605G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334596.1:p.Arg202Ile",
        "hgvsWellDefined": "NP_001334596.1:p.Arg202Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687473"
    }
  ],
  "type": "nucleotide"
}