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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54912130C>A
CA2801652303
14
g.54912132C=
CA2138244279
14
g.54912132C>T
CA2138244281
dbSNP
14
g.54912134C=
CA2138244282
14
g.54912134C>G
CA260533861
dbSNP
gnomAD v3
gnomAD v4
14
g.54912135A=
CA2138244284
14
g.54912135A>C
CA706944143
dbSNP
14
g.54912135A>T
CA963342821
dbSNP
gnomAD v3
gnomAD v4
14
g.54912139T>G
CA2801652304
14
g.54912140G>A
CA2138244288
dbSNP
14
g.54912140G=
CA2138244286
14
g.54912140G>T
CA260533863
dbSNP
gnomAD v3
gnomAD v4
14
g.54912142A>T
CA2518396040
14
g.54912143G>C
CA614284071
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912143G=
CA2138244290
14
g.54912148T>C
CA963342825
dbSNP
gnomAD v3
gnomAD v4
14
g.54912148T=
CA2138244292
14
g.54912150C=
CA2138244294
14
g.54912150C>T
CA260533865
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912151G>A
CA2138244299
dbSNP
14
g.54912151G>C
CA614284073
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912151G=
CA2138244297
14
g.54912158G=
CA2138244300
14
g.54912160_54912163dup
CA919422550
dbSNP
14
g.54912160T>C
CA2508667239
14
g.54912162_54912163insTG
CA2563478483
14
g.54912163C=
CA2138244303
14
g.54912163C>T
CA963342830
dbSNP
gnomAD v3
gnomAD v4
14
g.54912165_54912166insTCAGCAG
CA2505605473
14
g.54912166A>G
CA2499957099
14
g.54912167C>A
CA963342832
gnomAD v3
gnomAD v4
14
g.54912169T>C
CA14030754
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912169T=
CA2138244305
14
g.54912170G>A
CA2801652305
14
g.54912177A=
CA2138244307
14
g.54912177A>C
CA963342837
dbSNP
gnomAD v3
gnomAD v4
14
g.54912184A=
CA2138244308
14
g.54912184A>G
CA2138244309
dbSNP
14
g.54912192G=
CA2138244311
14
g.54912192G>T
CA963342838
dbSNP
gnomAD v3
gnomAD v4
14
g.54912194T>G
CA2801652306
14
g.54912197G>A
CA260533869
dbSNP
gnomAD v3
gnomAD v4
14
g.54912197G=
CA2138244313
14
g.54912204C>A
CA706944149
dbSNP
gnomAD v3
gnomAD v4
14
g.54912204C=
CA2138244320
14
g.54912204C>G
CA2138244322
dbSNP
14
g.54912204C>T
CA2729571728
dbSNP
14
g.54912205A=
CA2138244323
14
g.54912205A>G
CA260533871
dbSNP
14
g.54912213T>G
CA2593414807
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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