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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.
ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.13916342A>G
CA2734691026
dbSNP
18
g.13916347G>A
CA296837353
dbSNP
gnomAD v3
gnomAD v4
18
g.13916347G=
CA2285934735
18
g.13916349G>A
CA2285934737
dbSNP
18
g.13916349G=
CA2285934736
18
g.13916351T>C
CA2285934739
dbSNP
18
g.13916351T=
CA2285934738
18
g.13916353A=
CA2285934740
18
g.13916353A>C
CA296837354
dbSNP
gnomAD v3
gnomAD v4
18
g.13916353A>T
CA776330748
dbSNP
18
g.13916354C=
CA2285934741
18
g.13916354C>T
CA296837355
dbSNP
18
g.13916356C>A
CA628498894
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916356C=
CA2285934742
18
g.13916356C>T
CA296837356
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916357G>A
CA2285934743
dbSNP
18
g.13916357G=
CA2285934744
18
g.13916360G>A
CA2285934746
dbSNP
18
g.13916360G=
CA2285934745
18
g.13916361G>A
CA296837357
dbSNP
gnomAD v3
gnomAD v4
18
g.13916361G=
CA2285934747
18
g.13916367T>C
CA628498897
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916367T=
CA2285934748
18
g.13916368G>A
CA2285934750
dbSNP
gnomAD v3
gnomAD v4
18
g.13916368G=
CA2285934749
18
g.13916370A=
CA2285934751
18
g.13916370A>G
CA2285934752
dbSNP
18
g.13916375A=
CA2285934753
18
g.13916375A>C
CA776330765
dbSNP
gnomAD v3
18
g.13916375A>G
CA657197121
COSMIC
18
g.13916376C>A
CA628498898
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916376C=
CA2285934754
18
g.13916376C>T
CA296837358
dbSNP
gnomAD v3
gnomAD v4
18
g.13916377C>A
CA776330767
dbSNP
gnomAD v3
gnomAD v4
18
g.13916377C=
CA2285934755
18
g.13916377C>T
CA2285934756
dbSNP
18
g.13916379_13916381delinsAAG
CA2285934757
18
g.13916387_13916388del
CA776330768
dbSNP
gnomAD v3
gnomAD v4
18
g.13916381G>T
CA2811046830
18
g.13916385G>A
CA2811046831
18
g.13916386A>T
CA657197122
COSMIC
18
g.13916387G>A
CA628498899
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916387G=
CA2285934758
18
g.13916388A=
CA2285934759
18
g.13916388A>C
CA2581337625
18
g.13916388A>G
CA14530595
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916388A>T
CA2581337626
18
g.13916389C>A
CA988029379
dbSNP
gnomAD v3
gnomAD v4
18
g.13916389C=
CA2285934760
18
g.13916389C>T
CA988029380
dbSNP
gnomAD v3
gnomAD v4
18
g.13916390C=
CA2285934761
18
g.13916390C>T
CA776330777
dbSNP
gnomAD v3
gnomAD v4
18
g.13916392G>C
CA2285934762
dbSNP
18
g.13916392G=
CA2285934763
18
g.13916398A=
CA2285934764
18
g.13916398A>C
CA776330778
dbSNP
gnomAD v3
gnomAD v4
18
g.13916399A=
CA2285934765
18
g.13916399A>T
CA2285934766
dbSNP
18
g.13916405C=
CA2285934767
18
g.13916405C>T
CA2285934768
dbSNP
18
g.13916408G>A
CA296837359
dbSNP
18
g.13916408G=
CA2285934769
18
g.13916409C=
CA2285934770
18
g.13916409C>T
CA776330780
dbSNP
gnomAD v3
gnomAD v4
18
g.13916410G>A
CA296837360
dbSNP
gnomAD v3
gnomAD v4
18
g.13916410G=
CA2285934771
18
g.13916410G>T
CA988029381
dbSNP
gnomAD v3
gnomAD v4
18
g.13916417C=
CA2285934772
18
g.13916417C>T
CA2285934773
dbSNP
18
g.13916418A>G
CA2734691030
dbSNP
18
g.13916418_13916449delinsACAATTTTATAAAGTGGCTTTTCCTGGCCTGT
CA2285934774
18
g.13916421_13916451del
CA776330783
dbSNP
18
g.13916421A=
CA2285934776
18
g.13916421A>G
CA2285934775
dbSNP
18
g.13916425T>C
CA2285934778
dbSNP
18
g.13916425T=
CA2285934777
18
g.13916426A=
CA2285934779
18
g.13916426A>G
CA2285934780
dbSNP
18
g.13916427T>C
CA2285934782
dbSNP
18
g.13916427T=
CA2285934781
18
g.13916428A=
CA2285934783
18
g.13916428A>C
CA296837361
dbSNP
18
g.13916429A=
CA2285934784
18
g.13916429A>G
CA776330791
dbSNP
18
g.13916430A=
CA2285934785
18
g.13916430A>G
CA2285934786
dbSNP
18
g.13916431G>T
CA2556931774
18
g.13916434G>C
CA776330795
dbSNP
18
g.13916434G=
CA2285934787
18
g.13916434G>T
CA988029383
dbSNP
gnomAD v3
gnomAD v4
18
g.13916436T>A
CA2811046832
18
g.13916439T>C
CA296837362
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.13916439T>G
CA296837363
dbSNP
18
g.13916439T=
CA2285934788
18
g.13916442T>C
CA776330800
dbSNP
gnomAD v3
gnomAD v4
18
g.13916442T=
CA2285934789
Number of alleles fetched
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