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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.7206161C=
CA2469924572
Y
g.7206161C>G
CA337580774
dbSNP
gnomAD v3
gnomAD v4
Y
g.7206161C>T
CA337580773
dbSNP
Y
g.7206173A>G
CA2589275975
gnomAD v3
gnomAD v4
Y
g.7206178A>T
CA1138879754
gnomAD v3
gnomAD v4
Y
g.7206180G>A
CA337580776
dbSNP
gnomAD v3
gnomAD v4
Y
g.7206180G=
CA2469924575
Y
g.7206185C>G
CA1138879773
gnomAD v3
gnomAD v4
Y
g.7206201_7206202delinsCA
CA2469924576
Y
g.7206202del
CA1138879777
dbSNP
gnomAD v3
gnomAD v4
Y
g.7206206G>A
CA1138879779
gnomAD v3
gnomAD v4
Y
g.7206208C>A
CA337580777
dbSNP
Y
g.7206208C=
CA2469924578
Y
g.7206209C>A
CA2518392958
Y
g.7206209C=
CA2469924580
Y
g.7206209C>G
CA337580779
dbSNP
gnomAD v3
gnomAD v4
Y
g.7206209C>T
CA1138879782
gnomAD v3
gnomAD v4
Y
g.7206226T>C
CA337580787
dbSNP
Y
g.7206226T=
CA2469924582
Y
g.7206235C>G
CA1138879785
gnomAD v3
gnomAD v4
Y
g.7206239T>A
CA2589275977
gnomAD v3
gnomAD v4
Y
g.7206242A>C
CA1138879789
gnomAD v3
gnomAD v4
Y
g.7206250C>G
CA1138879792
gnomAD v3
gnomAD v4
Y
g.7206250C>T
CA1138879796
gnomAD v3
gnomAD v4
Y
g.7206254G>T
CA2559874061
Number of alleles fetched
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