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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.17132732A>G
CA2739195016
dbSNP
Y
g.17132738T>G
CA337283582
dbSNP
Y
g.17132738T=
CA2470827686
Y
g.17132740G>A
CA1139510919
gnomAD v3
gnomAD v4
Y
g.17132743A>T
CA658588645
COSMIC
Y
g.17132744G>A
CA2589313495
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132745C>A
CA2558256484
Y
g.17132751A=
CA2470827687
Y
g.17132751A>G
CA2470827688
dbSNP
Y
g.17132758G>A
CA1139510921
gnomAD v3
gnomAD v4
Y
g.17132759A>G
CA1139510929
gnomAD v3
gnomAD v4
Y
g.17132760C>T
CA1139510934
gnomAD v3
gnomAD v4
Y
g.17132764G>C
CA2470827690
dbSNP
Y
g.17132764G=
CA2470827689
Y
g.17132765G>C
CA1139510935
gnomAD v3
gnomAD v4
Y
g.17132773G>A
CA337283585
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132773G=
CA2470827691
Y
g.17132779C>T
CA1139510940
gnomAD v3
gnomAD v4
Y
g.17132781G>T
CA658588659
COSMIC
Y
g.17132785C>A
CA2563576699
Y
g.17132798C>A
CA337283587
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132798C=
CA2470827692
Y
g.17132799C>A
CA337283590
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132799C=
CA2470827693
Y
g.17132799C>G
CA2533152271
Y
g.17132806C=
CA2470827694
Y
g.17132806C>T
CA337283591
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132809G>A
CA1139510945
dbSNP
Y
g.17132809G=
CA2470827695
Y
g.17132816G>T
CA2562071435
Y
g.17132820G>C
CA2589313500
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132824G>A
CA1139510950
gnomAD v3
gnomAD v4
Y
g.17132831T>C
CA1139510953
dbSNP
gnomAD v3
gnomAD v4
Y
g.17132831T=
CA2470827696
Number of alleles fetched
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