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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.17067521C>A
CA2572416308
Y
g.17067526C>T
CA1139491718
gnomAD v3
gnomAD v4
Y
g.17067536C>A
CA1139491720
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067536C=
CA2470822872
Y
g.17067536C>T
CA1139491722
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067537G>A
CA1139491725
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067553G>T
CA1139491746
gnomAD v3
gnomAD v4
Y
g.17067556T>C
CA880355927
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067556T=
CA2470822873
Y
g.17067560C>A
CA1139491754
gnomAD v3
gnomAD v4
Y
g.17067564A>C
CA1139491755
gnomAD v3
gnomAD v4
Y
g.17067583G=
CA2470822874
Y
g.17067583G>T
CA337278666
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067584C>A
CA337278667
dbSNP
Y
g.17067584C=
CA2470822875
Y
g.17067591G>A
CA337278669
dbSNP
Y
g.17067591G=
CA2470822876
Y
g.17067593T>A
CA2571199141
Y
g.17067596T>C
CA2589313848
gnomAD v3
gnomAD v4
Y
g.17067600C>A
CA2551296615
Y
g.17067604C=
CA2470822877
Y
g.17067604C>T
CA2470822878
dbSNP
Y
g.17067609G>C
CA2589313850
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067613T>C
CA2523723664
Y
g.17067615C=
CA2470822879
Y
g.17067615C>T
CA1139491759
dbSNP
gnomAD v3
gnomAD v4
Y
g.17067616A>C
CA2589313852
gnomAD v3
gnomAD v4
Number of alleles fetched
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