{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384693632",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.14644-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332604[alleleid]",
        "alleleId": 1332604,
        "preferredName": "NM_003482.4(KMT2D):c.14644-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341398",
        "RCV": [
          "RCV001829312"
        ],
        "variationId": 1341398
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49421106C>T?assembly=hg19",
        "id": "chr12:g.49421106C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49027323C>T?assembly=hg38",
        "id": "chr12:g.49027323C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2120371733",
        "rs": 2120371733
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49027323,
          "referenceAllele": "C",
          "start": 49027322
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49027323C>T",
        "CM000674.2:g.49027323C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49421106,
          "referenceAllele": "C",
          "start": 49421105
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49421106C>T",
        "CM000674.1:g.49421106C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47707373,
          "referenceAllele": "C",
          "start": 47707372
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47707373C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33002,
          "referenceAllele": "G",
          "start": 33001
        }
      ],
      "hgvs": [
        "NG_027827.1:g.33002G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15862,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15862,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14652,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 14652,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.14653-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:n.14653-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000686151.1:n.219-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "endIntronDirection": "+",
          "endIntronOffset": 480,
          "referenceAllele": "G",
          "start": 261,
          "startIntronDirection": "+",
          "startIntronOffset": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000688411.1:c.261+480G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510146.1:n.261+480G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 232,
          "referenceAllele": "G",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000691463.1:c.262-233G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510624.1:n.262-233G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14640,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 14640,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.14641-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:n.14641-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15862,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15862,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14644-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14644-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:n.14644-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:n.14644-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14643,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 14643,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14643,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 14643,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.14653-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:n.14653-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15933,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15933,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.14641-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:n.14641-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15953,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15953,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.14653-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:n.14653-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15950,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15950,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.14650-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:n.14650-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15943,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15943,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15940,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15940,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.14641-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:n.14641-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15933,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15933,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.14632-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:n.14632-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15890,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15890,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.14587-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:n.14587-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15860,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15860,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.14560-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:n.14560-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16972,
          "endIntronDirection": "+",
          "endIntronOffset": 480,
          "referenceAllele": "G",
          "start": 16972,
          "startIntronDirection": "+",
          "startIntronOffset": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.16972+480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15932,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15932,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.14653-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:n.14653-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15919,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15919,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.14641-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:n.14641-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15934,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15934,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.14653-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:n.14653-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15931,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15931,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.14650-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:n.14650-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15925,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15925,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.14641-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:n.14641-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15914,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15914,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.14632-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:n.14632-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15841,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15841,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.14560-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:n.14560-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15961,
          "endIntronDirection": "+",
          "endIntronOffset": 480,
          "referenceAllele": "G",
          "start": 15961,
          "startIntronDirection": "+",
          "startIntronOffset": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.15961+480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15862,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 15862,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.14644-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:n.14644-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14644-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14644-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:n.14644-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:n.14644-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}