{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1533853",
  "communityStandardTitle": [
    "NM_001349206.2(LPIN1):c.1795A>G (p.Thr599Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=880930[alleleid]",
        "alleleId": 880930,
        "preferredName": "NM_001349206.2(LPIN1):c.1795A>G (p.Thr599Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/894493",
        "RCV": [
          "RCV001135320",
          "RCV003339514"
        ],
        "variationId": 894493
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-11932121-A-G",
        "id": "2-11932121-A-G",
        "variant": "2:11932121 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.11932121A>G?assembly=hg19",
        "id": "chr2:g.11932121A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.11791995A>G?assembly=hg38",
        "id": "chr2:g.11791995A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758794799",
        "rs": 758794799
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-11932121-A-G?dataset=gnomad_r2_1",
        "id": "2-11932121-A-G",
        "variant": "2:11932121 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-11791995-A-G?dataset=gnomad_r3",
        "id": "2-11791995-A-G",
        "variant": "2:11791995 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-11791995-A-G?dataset=gnomad_r4",
        "id": "2-11791995-A-G",
        "variant": "2:11791995 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 11791995,
          "referenceAllele": "A",
          "start": 11791994
        }
      ],
      "hgvs": [
        "NC_000002.12:g.11791995A>G",
        "CM000664.2:g.11791995A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 11932121,
          "referenceAllele": "A",
          "start": 11932120
        }
      ],
      "hgvs": [
        "NC_000002.11:g.11932121A>G",
        "CM000664.1:g.11932121A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 11849572,
          "referenceAllele": "A",
          "start": 11849571
        }
      ],
      "hgvs": [
        "NC_000002.10:g.11849572A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119417,
          "referenceAllele": "A",
          "start": 119416
        }
      ],
      "hgvs": [
        "NG_012843.2:g.119417A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "A",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000674199.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501331.1:p.Thr599Ala",
        "hgvsWellDefined": "ENSP00000501331.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674199.1:c.1795A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001349206.2:c.1795A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501331.1:p.Thr599Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001336135.1:p.Thr599Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000256720.6:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256720.2:p.Thr563Ala",
        "hgvsWellDefined": "ENSP00000256720.2:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2090,
          "referenceAllele": "A",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000396097.5:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379404.2:p.Thr605Ala",
        "hgvsWellDefined": "ENSP00000379404.2:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "referenceAllele": "A",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000396099.5:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379406.2:p.Thr605Ala",
        "hgvsWellDefined": "ENSP00000379406.2:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "referenceAllele": "A",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000404113.6:n.1280A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "A",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000425416.6:c.1705A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401522.2:p.Thr569Ala",
        "hgvsWellDefined": "ENSP00000401522.2:p.Thr569Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1995,
          "referenceAllele": "A",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000449576.6:c.1942A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397908.2:p.Thr648Ala",
        "hgvsWellDefined": "ENSP00000397908.2:p.Thr648Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000454151.2:c.268A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413714.1:p.Thr90Ala",
        "hgvsWellDefined": "ENSP00000413714.1:p.Thr90Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "ENST00000464953.2:n.273A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826482181",
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "A",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261427.1:c.1705A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248356.1:p.Thr569Ala",
        "hgvsWellDefined": "NP_001248356.1:p.Thr569Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690885",
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "A",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261428.1:c.1942A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248357.1:p.Thr648Ala",
        "hgvsWellDefined": "NP_001248357.1:p.Thr648Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830291344",
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "referenceAllele": "A",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_145693.2:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_663731.1:p.Thr563Ala",
        "hgvsWellDefined": "NP_663731.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "A",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711869.1:c.1834A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711932.1:p.Thr612Ala",
        "hgvsWellDefined": "XP_006711932.1:p.Thr612Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711870.2:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711933.1:p.Thr605Ala",
        "hgvsWellDefined": "XP_006711933.1:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "referenceAllele": "A",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711871.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711934.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_006711934.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2104,
          "referenceAllele": "A",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711872.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711935.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_006711935.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711874.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711937.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_006711937.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "A",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510333.1:c.1939A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508635.1:p.Thr647Ala",
        "hgvsWellDefined": "XP_011508635.1:p.Thr647Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "A",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510334.1:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508636.1:p.Thr605Ala",
        "hgvsWellDefined": "XP_011508636.1:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2536,
          "referenceAllele": "A",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510335.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508637.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_011508637.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077600"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2418,
          "referenceAllele": "A",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510336.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508638.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_011508638.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510337.1:c.1942A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508639.1:p.Thr648Ala",
        "hgvsWellDefined": "XP_011508639.1:p.Thr648Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826482181",
      "coordinates": [
        {
          "allele": "G",
          "end": 2001,
          "referenceAllele": "A",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261427.2:c.1705A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248356.1:p.Thr569Ala",
        "hgvsWellDefined": "NP_001248356.1:p.Thr569Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690885",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "A",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261428.2:c.1942A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248357.1:p.Thr648Ala",
        "hgvsWellDefined": "NP_001248357.1:p.Thr648Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827464699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "A",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349199.1:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336128.1:p.Thr563Ala",
        "hgvsWellDefined": "NP_001336128.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827465363",
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "A",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349200.1:c.1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336129.1:p.Thr589Ala",
        "hgvsWellDefined": "NP_001336129.1:p.Thr589Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466031",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349201.1:c.1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336130.1:p.Thr589Ala",
        "hgvsWellDefined": "NP_001336130.1:p.Thr589Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466697",
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349202.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336131.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001336131.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827467328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1888,
          "referenceAllele": "A",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349203.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336132.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001336132.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827467919",
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "referenceAllele": "A",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349204.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336133.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336133.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827468406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "referenceAllele": "A",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349205.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336134.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336134.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469072",
      "coordinates": [
        {
          "allele": "G",
          "end": 1891,
          "referenceAllele": "A",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349206.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336135.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336135.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469827",
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349207.1:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336136.1:p.Thr629Ala",
        "hgvsWellDefined": "NP_001336136.1:p.Thr629Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827470499",
      "coordinates": [
        {
          "allele": "G",
          "end": 1938,
          "referenceAllele": "A",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349208.1:c.1834A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336137.1:p.Thr612Ala",
        "hgvsWellDefined": "NP_001336137.1:p.Thr612Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830291344",
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "referenceAllele": "A",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_145693.3:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_663731.1:p.Thr563Ala",
        "hgvsWellDefined": "NP_663731.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "referenceAllele": "A",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NR_146080.1:n.1783A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711870.4:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711933.1:p.Thr605Ala",
        "hgvsWellDefined": "XP_006711933.1:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2104,
          "referenceAllele": "A",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_006711872.3:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711935.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_006711935.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510333.2:c.1939A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508635.1:p.Thr647Ala",
        "hgvsWellDefined": "XP_011508635.1:p.Thr647Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2081,
          "referenceAllele": "A",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510334.3:c.1813A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508636.1:p.Thr605Ala",
        "hgvsWellDefined": "XP_011508636.1:p.Thr605Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2536,
          "referenceAllele": "A",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510335.3:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508637.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_011508637.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2418,
          "referenceAllele": "A",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_011510336.3:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508638.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_011508638.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003623.2:c.1864A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859112.1:p.Thr622Ala",
        "hgvsWellDefined": "XP_016859112.1:p.Thr622Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003624.2:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859113.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_016859113.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2757,
          "referenceAllele": "A",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003625.2:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859114.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_016859114.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2533,
          "referenceAllele": "A",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003627.2:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859116.1:p.Thr598Ala",
        "hgvsWellDefined": "XP_016859116.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2428,
          "referenceAllele": "A",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003628.2:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859117.1:p.Thr563Ala",
        "hgvsWellDefined": "XP_016859117.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "A",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003629.1:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859118.1:p.Thr563Ala",
        "hgvsWellDefined": "XP_016859118.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_017003630.2:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859119.1:p.Thr563Ala",
        "hgvsWellDefined": "XP_016859119.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "A",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_024452762.1:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308530.1:p.Thr599Ala",
        "hgvsWellDefined": "XP_024308530.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "A",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "XM_024452763.1:c.1705A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308531.1:p.Thr569Ala",
        "hgvsWellDefined": "XP_024308531.1:p.Thr569Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690885",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "A",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261428.3:c.1942A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248357.1:p.Thr648Ala",
        "hgvsWellDefined": "NP_001248357.1:p.Thr648Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827464699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1854,
          "referenceAllele": "A",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349199.2:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336128.1:p.Thr563Ala",
        "hgvsWellDefined": "NP_001336128.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827465363",
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349200.2:c.1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336129.1:p.Thr589Ala",
        "hgvsWellDefined": "NP_001336129.1:p.Thr589Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687860"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466031",
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "A",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349201.2:c.1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336130.1:p.Thr589Ala",
        "hgvsWellDefined": "NP_001336130.1:p.Thr589Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1959,
          "referenceAllele": "A",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349202.2:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336131.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001336131.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827467328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1841,
          "referenceAllele": "A",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349203.2:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336132.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001336132.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687863"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827467919",
      "coordinates": [
        {
          "allele": "G",
          "end": 1962,
          "referenceAllele": "A",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349204.2:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336133.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336133.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469072",
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "A",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349206.2:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336135.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336135.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674199.1:c.1795A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001349206.2:c.1795A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501331.1:p.Thr599Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001336135.1:p.Thr599Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469827",
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349207.2:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336136.1:p.Thr629Ala",
        "hgvsWellDefined": "NP_001336136.1:p.Thr629Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827470499",
      "coordinates": [
        {
          "allele": "G",
          "end": 1938,
          "referenceAllele": "A",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349208.2:c.1834A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336137.1:p.Thr612Ala",
        "hgvsWellDefined": "NP_001336137.1:p.Thr612Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830291344",
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_145693.4:c.1687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_663731.1:p.Thr563Ala",
        "hgvsWellDefined": "NP_663731.1:p.Thr563Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NR_146080.2:n.1736A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826482181",
      "coordinates": [
        {
          "allele": "G",
          "end": 2001,
          "referenceAllele": "A",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001261427.3:c.1705A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248356.1:p.Thr569Ala",
        "hgvsWellDefined": "NP_001248356.1:p.Thr569Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827468406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "referenceAllele": "A",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013345",
      "geneNCBI_id": 23175,
      "geneSymbol": "LPIN1",
      "hgvs": [
        "NM_001349205.2:c.1795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336134.1:p.Thr599Ala",
        "hgvsWellDefined": "NP_001336134.1:p.Thr599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719264"
    }
  ],
  "type": "nucleotide"
}