{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA308496", "communityStandardTitle": [ "NM_002230.4(JUP):c.809T>A (p.Leu270Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198496[alleleid]", "alleleId": 198496, "preferredName": "NM_002230.4(JUP):c.809T>A (p.Leu270Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201818", "RCV": [ "RCV000692331", "RCV002223809", "RCV001264511", "RCV002415782" ], "variationId": 201818 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-39923731-A-T", "id": "17-39923731-A-T", "variant": "17:39923731 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39923731A>T?assembly=hg19", "id": "chr17:g.39923731A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41767479A>T?assembly=hg38", "id": "chr17:g.41767479A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794729040", "rs": 794729040 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39923731-A-T?dataset=gnomad_r2_1", "id": "17-39923731-A-T", "variant": "17:39923731 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41767479-A-T?dataset=gnomad_r3", "id": "17-41767479-A-T", "variant": "17:41767479 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41767479-A-T?dataset=gnomad_r4", "id": "17-41767479-A-T", "variant": "17:41767479 A / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41767479, "referenceAllele": "A", "start": 41767478 } ], "hgvs": [ "NC_000017.11:g.41767479A>T", "CM000679.2:g.41767479A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39923731, "referenceAllele": "A", "start": 39923730 } ], "hgvs": [ "NC_000017.10:g.39923731A>T", "CM000679.1:g.39923731A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37177257, "referenceAllele": "A", "start": 37177256 } ], "hgvs": [ "NC_000017.9:g.37177257A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 24234, "referenceAllele": "T", "start": 24233 } ], "hgvs": [ "NG_009090.2:g.24234T>A", "LRG_401:g.24234T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "T", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Leu270Gln", "hgvsWellDefined": "ENSP00000377508.3:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.809T>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.809T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Leu270Gln" }, "RefSeq": { "hgvs": "NP_002221.1:p.Leu270Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Leu270Gln", "hgvsWellDefined": "ENSP00000311113.5:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "T", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Leu270Gln", "hgvsWellDefined": "ENSP00000377507.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Leu270Gln", "hgvsWellDefined": "ENSP00000377508.3:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "T", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000420370.5:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000411449.1:p.Leu270Gln", "hgvsWellDefined": "ENSP00000411449.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS286287" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "T", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437187.5:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000394146.1:p.Leu270Gln", "hgvsWellDefined": "ENSP00000394146.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294343" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "T", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.809T>A" ], "proteinEffect": { "hgvs": "ENSP00000389886.1:p.Leu270Gln", "hgvsWellDefined": "ENSP00000389886.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "@id": "http://reg.genome.network/allele/PA308499", "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "T", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.809T>A", "LRG_401t2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Leu270Gln", "hgvsWellDefined": "NP_002221.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA308500", "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "T", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.809T>A", "LRG_401t1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Leu270Gln", "hgvsWellDefined": "NP_068831.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Leu270Gln", "hgvsWellDefined": "XP_006721936.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Leu270Gln", "hgvsWellDefined": "XP_006721937.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "T", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Leu270Gln", "hgvsWellDefined": "XP_006721938.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "T", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Leu270Gln", "hgvsWellDefined": "XP_006721941.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "T", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523055.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523056.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523057.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523058.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "T", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523059.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "T", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523060.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677680", "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339702.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678548", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "T", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339703.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679415", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "T", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339704.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680283", "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "T", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339705.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681151", "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339706.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA308499", "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.809T>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Leu270Gln", "hgvsWellDefined": "NP_002221.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA308500", "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.809T>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Leu270Gln", "hgvsWellDefined": "NP_068831.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.809T>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Leu270Gln", "hgvsWellDefined": "XP_006721937.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1228, "referenceAllele": "T", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.809T>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Leu270Gln", "hgvsWellDefined": "XP_011523055.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.860T>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Leu287Gln", "hgvsWellDefined": "XP_016880077.1:p.Leu287Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "T", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.809T>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Leu270Gln", "hgvsWellDefined": "XP_016880079.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA308499", "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "T", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.809T>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Leu270Gln", "hgvsWellDefined": "NP_002221.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.809T>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.809T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Leu270Gln" }, "RefSeq": { "hgvs": "NP_002221.1:p.Leu270Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677680", "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339702.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678548", "coordinates": [ { "allele": "A", "end": 938, "referenceAllele": "T", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339703.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679415", "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "T", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339704.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680283", "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339705.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681151", "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "T", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.809T>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Leu270Gln", "hgvsWellDefined": "NP_001339706.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA308500", "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "T", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.809T>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Leu270Gln", "hgvsWellDefined": "NP_068831.1:p.Leu270Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }