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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.54839594T>C
CA260540248
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839594T=
CA2138215418
14
g.54839597T>A
CA706946999
dbSNP
gnomAD v3
gnomAD v4
14
g.54839597T>C
CA260540262
dbSNP
14
g.54839597T=
CA2138215420
14
g.54839598G>A
CA2138215424
dbSNP
14
g.54839598G=
CA2138215423
14
g.54839604C=
CA2138215426
14
g.54839604C>T
CA706947005
dbSNP
gnomAD v3
gnomAD v4
14
g.54839605T>G
CA260540276
dbSNP
gnomAD v3
gnomAD v4
14
g.54839605T=
CA2138215428
14
g.54839605_54839606insTTTCTCTTTG
CA2513415196
14
g.54839607C=
CA2138215434
14
g.54839607C>T
CA2138215436
dbSNP
14
g.54839607_54839608delinsCA
CA2138215433
14
g.54839608del
CA614283446
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839609C>A
CA2801650331
14
g.54839609C=
CA2138215441
14
g.54839610A=
CA2138215443
14
g.54839610A>C
CA614283447
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839616dup
CA706947021
dbSNP
gnomAD v3
gnomAD v4
14
g.54839617_54839620del
CA2593414436
dbSNP
gnomAD v3
gnomAD v4
14
g.54839616A=
CA2138215445
14
g.54839616A>G
CA614283448
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839616_54839617delinsAC
CA2138215447
14
g.54839617del
CA706947026
dbSNP
gnomAD v3
gnomAD v4
14
g.54839620A=
CA2138215450
14
g.54839620A>G
CA260540282
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839620A>T
CA706947044
dbSNP
14
g.54839623A=
CA2138215452
14
g.54839623A>G
CA260540285
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54839624G=
CA2138215454
14
g.54839631dup
CA706947045
dbSNP
gnomAD v3
gnomAD v4
14
g.54839630A=
CA2138215455
14
g.54839630A>T
CA706947048
dbSNP
14
g.54839631_54839632delinsAG
CA2138215458
14
g.54839632del
CA706947051
dbSNP
14
g.54839632G>T
CA963353935
gnomAD v3
gnomAD v4
14
g.54839633A=
CA2138215462
14
g.54839633A>G
CA260540294
dbSNP
gnomAD v3
gnomAD v4
14
g.54839635A=
CA2138215466
14
g.54839635A>G
CA2138215467
dbSNP
14
g.54839636T>C
CA963353937
dbSNP
gnomAD v3
gnomAD v4
14
g.54839636T=
CA2138215469
14
g.54839640A=
CA2138215470
14
g.54839640A>C
CA2138215471
dbSNP
14
g.54839642T>C
CA260540297
dbSNP
14
g.54839642T>G
CA706947054
dbSNP
14
g.54839642T=
CA2138215474
14
g.54839646T>C
CA706947055
dbSNP
Number of alleles fetched
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