{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA168501",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132226[alleleid]",
        "alleleId": 132226,
        "preferredName": "NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126716",
        "RCV": [
          "RCV000114598",
          "RCV000131630",
          "RCV000485289",
          "RCV000780560",
          "RCV002483180"
        ],
        "variationId": 126716
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-23625398-C-G",
        "id": "16-23625398-C-G",
        "variant": "16:23625398 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23625398C>G?assembly=hg19",
        "id": "chr16:g.23625398C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23614077C>G?assembly=hg38",
        "id": "chr16:g.23614077C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377713277",
        "rs": 377713277
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23625398-C-G?dataset=gnomad_r2_1",
        "id": "16-23625398-C-G",
        "variant": "16:23625398 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23614077-C-G?dataset=gnomad_r3",
        "id": "16-23614077-C-G",
        "variant": "16:23614077 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23614077-C-G?dataset=gnomad_r4",
        "id": "16-23614077-C-G",
        "variant": "16:23614077 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23614077,
          "referenceAllele": "C",
          "start": 23614076
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23614077C>G",
        "CM000678.2:g.23614077C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23625398,
          "referenceAllele": "C",
          "start": 23625397
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23625398C>G",
        "CM000678.1:g.23625398C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23532899,
          "referenceAllele": "C",
          "start": 23532898
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23532899C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32281,
          "referenceAllele": "G",
          "start": 32280
        }
      ],
      "hgvs": [
        "NG_007406.1:g.32281G>C",
        "LRG_308:g.32281G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "G",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Gly1045Ala",
        "hgvsWellDefined": "ENSP00000460666.3:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.*609G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:n.*609G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3267,
          "referenceAllele": "G",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Gly1043Ala",
        "hgvsWellDefined": "ENSP00000459237.2:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3365,
          "referenceAllele": "G",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.2972G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Gly991Ala",
        "hgvsWellDefined": "ENSP00000513286.2:p.Gly991Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3433,
          "referenceAllele": "G",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Gly1045Ala",
        "hgvsWellDefined": "ENSP00000513287.2:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "G",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:p.Gly748Ala",
        "hgvsWellDefined": "ENSP00000460666.2:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:p.Gly748Ala",
        "hgvsWellDefined": "ENSP00000513284.1:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4475,
          "referenceAllele": "G",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.4475G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "G",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:p.Gly748Ala",
        "hgvsWellDefined": "ENSP00000513285.1:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3365,
          "referenceAllele": "G",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.2081G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:p.Gly694Ala",
        "hgvsWellDefined": "ENSP00000513286.1:p.Gly694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3648,
          "referenceAllele": "G",
          "start": 3647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.3648G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3433,
          "referenceAllele": "G",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:p.Gly748Ala",
        "hgvsWellDefined": "ENSP00000513287.1:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2405,
          "endIntronDirection": "-",
          "endIntronOffset": 6064,
          "referenceAllele": "G",
          "start": 2405,
          "startIntronDirection": "-",
          "startIntronOffset": 6065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697380.1:n.2406-6065G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697381.1:n.1823G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4141,
          "endIntronDirection": "-",
          "endIntronOffset": 6064,
          "referenceAllele": "G",
          "start": 4141,
          "startIntronDirection": "-",
          "startIntronOffset": 6065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.2229-6065G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.2229-6065G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.662G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:p.Gly221Ala",
        "hgvsWellDefined": "ENSP00000513289.1:p.Gly221Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3281,
          "referenceAllele": "G",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gly1043Ala",
        "hgvsWellDefined": "ENSP00000261584.4:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.3128G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.3128G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gly1043Ala"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gly1043Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3281,
          "referenceAllele": "G",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gly1043Ala",
        "hgvsWellDefined": "ENSP00000261584.4:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.5:c.43G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:p.Gly748Ala",
        "hgvsWellDefined": "ENSP00000454703.2:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168503",
      "coordinates": [
        {
          "allele": "C",
          "end": 3328,
          "referenceAllele": "G",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.3128G>C",
        "LRG_308t1:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gly1043Ala",
        "hgvsWellDefined": "NP_078951.2:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "G",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gly1045Ala",
        "hgvsWellDefined": "XP_011544248.1:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gly1045Ala",
        "hgvsWellDefined": "XP_011544249.1:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Gly748Ala",
        "hgvsWellDefined": "XP_011544250.1:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3909,
          "endIntronDirection": "-",
          "endIntronOffset": 6064,
          "referenceAllele": "G",
          "start": 3909,
          "startIntronDirection": "-",
          "startIntronOffset": 6065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.3910-6065G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "G",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gly1045Ala",
        "hgvsWellDefined": "XP_011544248.1:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4098,
          "referenceAllele": "G",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.3134G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gly1045Ala",
        "hgvsWellDefined": "XP_011544249.1:p.Gly1045Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.2243G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Gly748Ala",
        "hgvsWellDefined": "XP_011544250.1:p.Gly748Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4083,
          "endIntronDirection": "+",
          "endIntronOffset": 7285,
          "referenceAllele": "G",
          "start": 4083,
          "startIntronDirection": "+",
          "startIntronOffset": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.3119+7285G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:n.3119+7285G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3293,
          "endIntronDirection": "+",
          "endIntronOffset": 7285,
          "referenceAllele": "G",
          "start": 3293,
          "startIntronDirection": "+",
          "startIntronOffset": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.3113+7285G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:n.3113+7285G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3308,
          "referenceAllele": "G",
          "start": 3307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Gly1043Ala",
        "hgvsWellDefined": "XP_016879162.1:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168503",
      "coordinates": [
        {
          "allele": "C",
          "end": 3281,
          "referenceAllele": "G",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.3128G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gly1043Ala",
        "hgvsWellDefined": "NP_078951.2:p.Gly1043Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.3128G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.3128G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gly1043Ala"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gly1043Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}