{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340293",
  "communityStandardTitle": [
    "NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19842[alleleid]",
        "alleleId": 19842,
        "preferredName": "NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4803",
        "RCV": [
          "RCV000005070",
          "RCV001174071",
          "RCV001004021",
          "RCV001249798"
        ],
        "variationId": 4803
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.94842326A>C?assembly=hg19",
        "id": "chr9:g.94842326A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.92080044A>C?assembly=hg38",
        "id": "chr9:g.92080044A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119482082",
        "rs": 119482082
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-92080044-A-C?dataset=gnomad_r4",
        "id": "9-92080044-A-C",
        "variant": "9:92080044 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 92080044,
          "referenceAllele": "A",
          "start": 92080043
        }
      ],
      "hgvs": [
        "NC_000009.12:g.92080044A>C",
        "CM000671.2:g.92080044A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 94842326,
          "referenceAllele": "A",
          "start": 94842325
        }
      ],
      "hgvs": [
        "NC_000009.11:g.94842326A>C",
        "CM000671.1:g.94842326A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 93882147,
          "referenceAllele": "A",
          "start": 93882146
        }
      ],
      "hgvs": [
        "NC_000009.10:g.93882147A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40365,
          "referenceAllele": "T",
          "start": 40364
        }
      ],
      "hgvs": [
        "NG_007950.1:g.40365T>G",
        "LRG_272:g.40365T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000718"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "T",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000482632.6:n.809T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000686600.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509268.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000509268.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "T",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000686799.1:n.496T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000687427.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509426.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000509426.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000687817.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508926.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000508926.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000687972.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509208.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000509208.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 306,
          "referenceAllele": "T",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000689261.1:n.306T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000689401.1:c.*411T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510251.1:n.*411T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "T",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000689423.1:c.*411T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508519.1:n.*411T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "T",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000690095.1:n.594T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000690139.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510483.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000510483.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "T",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000692458.1:n.422T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "T",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000693147.1:c.*415T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510358.1:n.*415T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000262554.7:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262554.2:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000262554.2:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262554.7:c.399T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006415.4:c.399T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262554.2:p.Cys133Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006406.1:p.Cys133Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "T",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000642671.1:c.33T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495764.1:p.Cys11Trp",
        "hgvsWellDefined": "ENSP00000495764.1:p.Cys11Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "T",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000643599.1:c.33T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494770.1:p.Cys11Trp",
        "hgvsWellDefined": "ENSP00000494770.1:p.Cys11Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "T",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000644140.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493933.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000493933.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "T",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000646481.1:c.33T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496627.1:p.Cys11Trp",
        "hgvsWellDefined": "ENSP00000496627.1:p.Cys11Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "T",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000646534.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495388.1:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000495388.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "T",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000262554.6:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262554.2:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000262554.2:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "T",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000337841.4:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337635.4:p.Cys133Trp",
        "hgvsWellDefined": "ENSP00000337635.4:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "T",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000477888.1:n.168T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "T",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "ENST00000482632.5:n.413T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826622385",
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001281303.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268232.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_001268232.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109406",
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_006415.3:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006406.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_006406.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075579",
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_178324.2:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_847894.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_847894.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_011518138.1:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516440.1:p.Cys133Trp",
        "hgvsWellDefined": "XP_011516440.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_011518139.1:c.-67T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516441.1:n.-67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_011518138.2:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516440.1:p.Cys133Trp",
        "hgvsWellDefined": "XP_011516440.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_011518139.3:c.-67T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516441.1:n.-67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_017014200.2:c.-101T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869689.1:n.-101T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "T",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XM_017014201.2:c.-101T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869690.1:n.-101T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "XR_002956744.1:n.416T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109406",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_006415.4:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006406.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_006406.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262554.7:c.399T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006415.4:c.399T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262554.2:p.Cys133Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006406.1:p.Cys133Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826622385",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001281303.2:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268232.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_001268232.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001368272.1:c.-101T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355201.1:n.-101T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "T",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001368273.1:c.-67T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355202.1:n.-67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075579",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_178324.3:c.399T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_847894.1:p.Cys133Trp",
        "hgvsWellDefined": "NP_847894.1:p.Cys133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700849"
    }
  ],
  "type": "nucleotide"
}