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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
Y
g.17029781A=
CA2470819985
Y
g.17029781A>G
CA1139480222
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029787A>G
CA1139480223
gnomAD v3
gnomAD v4
Y
g.17029789C=
CA2470819986
Y
g.17029789C>T
CA337275973
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029800A>T
CA2555266942
Y
g.17029802A>C
CA658587941
COSMIC
Y
g.17029804G>C
CA1139480225
gnomAD v3
gnomAD v4
Y
g.17029810_17029813delinsGATA
CA2470819987
Y
g.17029815_17029817del
CA1139480227
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029813A>T
CA658587943
COSMIC
Y
g.17029821C>A
CA1139480229
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029821C=
CA2470819988
Y
g.17029822C>A
CA1139480231
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029822C=
CA2470819989
Y
g.17029822C>T
CA2517585945
Y
g.17029823T>C
CA2530633210
Y
g.17029824C>T
CA2515638059
Y
g.17029833C>T
CA1139480235
gnomAD v3
gnomAD v4
Y
g.17029836C=
CA2470819990
Y
g.17029836C>T
CA1139480238
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029837G>A
CA2470819992
dbSNP
Y
g.17029837G=
CA2470819991
Y
g.17029845T>C
CA2510244304
Y
g.17029860T>G
CA337275976
dbSNP
Y
g.17029860T=
CA2470819993
Y
g.17029870C>A
CA2589314107
gnomAD v3
gnomAD v4
Y
g.17029874C>T
CA1139480242
gnomAD v3
gnomAD v4
Y
g.17029875T>A
CA337275979
dbSNP
gnomAD v3
gnomAD v4
Y
g.17029875T=
CA2470819994
Y
g.17029881C>T
CA1139480243
gnomAD v3
gnomAD v4
Number of alleles fetched
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