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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
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.17086292C>A
CA1139499420
gnomAD v3
gnomAD v4
Y
g.17086301A>G
CA1139499432
gnomAD v3
gnomAD v4
Y
g.17086305_17086309delinsAAGAC
CA2470824108
Y
g.17086308_17086311del
CA1139499446
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086318C>A
CA2533747434
Y
g.17086321C>A
CA2511349315
Y
g.17086332G>A
CA337279782
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086332G=
CA2470824109
Y
g.17086338C>T
CA1139499458
gnomAD v3
gnomAD v4
Y
g.17086341A=
CA2470824110
Y
g.17086341A>G
CA1139499462
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086342A>G
CA1139499463
gnomAD v3
gnomAD v4
Y
g.17086345A=
CA2470824111
Y
g.17086345A>G
CA1139499465
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086349T>C
CA2549245947
Y
g.17086352A>C
CA2739198696
dbSNP
Y
g.17086356_17086357delinsGA
CA2470824112
Y
g.17086357del
CA1139499470
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086358G>A
CA2548557362
Y
g.17086360T>A
CA1139499488
gnomAD v3
gnomAD v4
Y
g.17086361G>T
CA2552474954
Y
g.17086362_17086363insGTGTATGTGTGA
CA2559101253
Y
g.17086368dup
CA2559872339
Y
g.17086371G>T
CA2504262204
Y
g.17086387T>C
CA337279786
dbSNP
gnomAD v3
gnomAD v4
Y
g.17086387T=
CA2470824113
Number of alleles fetched
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