{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580612733",
  "communityStandardTitle": [
    "NM_145239.3(PRRT2):c.640delinsCC (p.Ala214ProfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2669134[alleleid]",
        "alleleId": 2669134,
        "preferredName": "NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2504178",
        "RCV": [
          "RCV003232967"
        ],
        "variationId": 2504178
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2466344219",
        "rs": 2466344219
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CC",
          "end": 29813694,
          "referenceAllele": "G",
          "start": 29813693
        }
      ],
      "hgvs": [
        "NC_000016.10:g.29813694delinsCC",
        "CM000678.2:g.29813694delinsCC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CC",
          "end": 29825015,
          "referenceAllele": "G",
          "start": 29825014
        }
      ],
      "hgvs": [
        "NC_000016.9:g.29825015delinsCC",
        "CM000678.1:g.29825015delinsCC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CC",
          "end": 29732516,
          "referenceAllele": "G",
          "start": 29732515
        }
      ],
      "hgvs": [
        "NC_000016.8:g.29732516delinsCC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 6607,
          "referenceAllele": "G",
          "start": 6606
        }
      ],
      "hgvs": [
        "NG_032039.1:g.6607delinsCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000358758.12:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351608.7:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000351608.7:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749114",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358758.12:c.640delinsCC"
          },
          "RefSeq": {
            "hgvs": "NM_145239.3:c.640delinsCC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351608.7:p.Ala214ProfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_660282.2:p.Ala214ProfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 547,
          "endIntronDirection": "+",
          "endIntronOffset": 301,
          "referenceAllele": "G",
          "start": 547,
          "startIntronDirection": "+",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000567551.2:c.339+301delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489813.1:n.339+301delinsCC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760526"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000636019.1:n.96delinsCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762813"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000636131.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490390.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000490390.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762895"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000636619.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489669.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000489669.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Pro243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763256"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000637064.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490826.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000490826.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763584"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000637290.1:c.348delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490278.1:p.Glu120ArgfsTer?",
        "hgvsWellDefined": "ENSP00000490278.1:p.[Pro119_Glu120insArgValLeuGlnGlnLeuVal;Cys121_Ser123delinsGluAspArgMetArgArgAlaHis;Trp125_Arg127delinsGlyHisProGlySerPro;Ile129_Glu130delinsGlySerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763758"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000637403.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489782.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000489782.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Glu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763838"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 301,
          "referenceAllele": "G",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000637565.1:c.339+301delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490207.1:n.339+301delinsCC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763950"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000647876.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498021.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000498021.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769664"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000300797.7:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300797.6:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000300797.6:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254914"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000358758.11:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351608.7:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000351608.7:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264572"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000567551.1:n.461delinsCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380180"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000567659.3:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456226.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000456226.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380255"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "ENST00000572820.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458291.2:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000458291.2:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383058"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "hgvs": [
        "ENST00000609618.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476774.2:p.Ala214ProfsTer11",
        "hgvsWellDefined": "ENSP00000476774.2:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400251"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_001256442.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243371.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_001243371.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019258"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_001256443.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243372.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_001243372.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019259"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_145239.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_660282.2:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_660282.2:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041403"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_011545715.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544017.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_011544017.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112601"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_011545716.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544018.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_011544018.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112602"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_011545717.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544019.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_011544019.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112603"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_011545718.1:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544020.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_011544020.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112604"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_011545715.3:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544017.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_011544017.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556211"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_017022887.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878376.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_016878376.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573741"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_017022888.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878377.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_016878377.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573742"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "XM_017022889.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878378.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "XP_016878378.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573743"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_145239.3:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_660282.2:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_660282.2:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672165",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358758.12:c.640delinsCC"
          },
          "RefSeq": {
            "hgvs": "NM_145239.3:c.640delinsCC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351608.7:p.Ala214ProfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_660282.2:p.Ala214ProfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_001256442.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243371.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_001243371.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680577"
    },
    {
      "coordinates": [
        {
          "allele": "CC",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030500",
      "geneNCBI_id": 112476,
      "geneSymbol": "PRRT2",
      "hgvs": [
        "NM_001256443.2:c.640delinsCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243372.1:p.Ala214ProfsTer11",
        "hgvsWellDefined": "NP_001243372.1:p.[Ala214Pro;Arg217_Arg230delinsProSerAlaAlaAla;His232_Ser233del;His235_Leu243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680578"
    }
  ],
  "type": "nucleotide"
}