{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3239077",
  "communityStandardTitle": [
    "NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=251963[alleleid]",
        "alleleId": 251963,
        "preferredName": "NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261666",
        "RCV": [
          "RCV000252356",
          "RCV000625261",
          "RCV000646713"
        ],
        "variationId": 261666
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-37226961-G-A",
        "id": "5-37226961-G-A",
        "variant": "5:37226961 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37226961G>A?assembly=hg19",
        "id": "chr5:g.37226961G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37226859G>A?assembly=hg38",
        "id": "chr5:g.37226859G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/191239995",
        "rs": 191239995
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37226961-G-A?dataset=gnomad_r2_1",
        "id": "5-37226961-G-A",
        "variant": "5:37226961 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37226859-G-A?dataset=gnomad_r3",
        "id": "5-37226859-G-A",
        "variant": "5:37226859 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37226859-G-A?dataset=gnomad_r4",
        "id": "5-37226859-G-A",
        "variant": "5:37226859 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37226859,
          "referenceAllele": "G",
          "start": 37226858
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37226859G>A",
        "CM000667.2:g.37226859G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37226961,
          "referenceAllele": "G",
          "start": 37226960
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37226961G>A",
        "CM000667.1:g.37226961G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37262718,
          "referenceAllele": "G",
          "start": 37262717
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37262718G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27570,
          "referenceAllele": "C",
          "start": 27569
        }
      ],
      "hgvs": [
        "NG_032772.1:g.27570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27570,
          "referenceAllele": "C",
          "start": 27569
        }
      ],
      "hgvs": [
        "NG_032772.2:g.27570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673869"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.7:c.1469C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000651892.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498265.2:p.Ala579Val",
        "hgvsWellDefined": "ENSP00000498265.2:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.1736C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.1736C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Ala579Val"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Ala579Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000675547.1:n.1806C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000676290.1:n.1811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.6:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389014.2:p.Ala579Val",
        "hgvsWellDefined": "ENSP00000389014.2:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000508244.5:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421690.1:p.Ala579Val",
        "hgvsWellDefined": "ENSP00000421690.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405725",
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.3:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Ala579Val",
        "hgvsWellDefined": "NP_075561.3:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248402.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248403.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248404.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248406.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248407.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_006714489.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714552.1:p.Ala579Val",
        "hgvsWellDefined": "XP_006714552.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512387.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512388.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512389.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512390.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512391.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.1:c.1418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Ala473Val",
        "hgvsWellDefined": "XP_011512392.1:p.Ala473Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514091.1:c.1064C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512393.1:p.Ala355Val",
        "hgvsWellDefined": "XP_011512393.1:p.Ala355Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "C",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512394.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514093.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512395.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512395.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_427661.2:n.1911C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.1:n.1911C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248402.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248403.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248404.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248406.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Ala579Val",
        "hgvsWellDefined": "XP_005248407.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.3:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512387.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.3:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512388.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512389.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512390.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512391.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.3:c.1418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Ala473Val",
        "hgvsWellDefined": "XP_011512392.1:p.Ala473Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.2:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Ala579Val",
        "hgvsWellDefined": "XP_011512394.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "C",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009760.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865249.1:p.Ala516Val",
        "hgvsWellDefined": "XP_016865249.1:p.Ala516Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009761.2:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865250.1:p.Ala516Val",
        "hgvsWellDefined": "XP_016865250.1:p.Ala516Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009763.1:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865252.1:p.Ala248Val",
        "hgvsWellDefined": "XP_016865252.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009765.1:c.548C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865254.1:p.Ala183Val",
        "hgvsWellDefined": "XP_016865254.1:p.Ala183Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446183.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301951.1:p.Ala516Val",
        "hgvsWellDefined": "XP_024301951.1:p.Ala516Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446184.1:c.1418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301952.1:p.Ala473Val",
        "hgvsWellDefined": "XP_024301952.1:p.Ala473Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446185.1:c.1064C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301953.1:p.Ala355Val",
        "hgvsWellDefined": "XP_024301953.1:p.Ala355Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446186.1:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301954.1:p.Ala248Val",
        "hgvsWellDefined": "XP_024301954.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_001742208.1:n.1960C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_002956171.1:n.1960C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.2:n.1960C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828981249",
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_001384732.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371661.1:p.Ala579Val",
        "hgvsWellDefined": "NP_001371661.1:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.1736C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.1736C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Ala579Val"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Ala579Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405725",
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.4:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Ala579Val",
        "hgvsWellDefined": "NP_075561.3:p.Ala579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728617"
    }
  ],
  "type": "nucleotide"
}