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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
X
g.51486873_51486874delinsGC
CA2429220943
X
g.51486874del
CA2429220944
dbSNP
X
g.51486880C>T
CA2820897254
X
g.51486885C>A
CA876208968
dbSNP
gnomAD v3
gnomAD v4
X
g.51486885C=
CA2429220945
X
g.51486888A>C
CA658035878
COSMIC
COSMIC
X
g.51486890G>C
CA876208970
dbSNP
gnomAD v3
gnomAD v4
X
g.51486890G=
CA2429220946
X
g.51486898G>C
CA2820897255
X
g.51486901A>G
CA2517846045
X
g.51486903G>T
CA2523703656
X
g.51486910G>A
CA641829371
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486910G=
CA2429220947
X
g.51486920A>G
CA2533045535
X
g.51486923G>A
CA1133113945
dbSNP
gnomAD v3
gnomAD v4
X
g.51486923G=
CA2429220948
X
g.51486927A=
CA2429220949
X
g.51486927A>G
CA329837876
dbSNP
gnomAD v3
gnomAD v4
X
g.51486933G>T
CA2520395893
X
g.51486935_51486939delinsCTATT
CA2429220950
X
g.51486939_51486942del
CA2429220951
dbSNP
X
g.51486937A>G
CA2820897256
X
g.51486942T>C
CA329837877
dbSNP
gnomAD v3
gnomAD v4
X
g.51486942T=
CA2429220952
X
g.51486947C>A
CA2519242912
X
g.51486948A>T
CA2594701029
dbSNP
gnomAD v3
gnomAD v4
X
g.51486950G>C
CA329837878
dbSNP
X
g.51486950G=
CA2429220953
X
g.51486951T>G
CA876208979
dbSNP
gnomAD v3
gnomAD v4
X
g.51486951T=
CA2429220954
X
g.51486952T>G
CA2738598922
dbSNP
X
g.51486960G>A
CA876208980
dbSNP
gnomAD v3
gnomAD v4
X
g.51486960G=
CA2429220955
X
g.51486961A=
CA2429220956
X
g.51486961A>G
CA641829373
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486964G=
CA2429220957
X
g.51486969dup
CA2429220958
dbSNP
X
g.51486969A=
CA2429220959
X
g.51486969A>G
CA876208990
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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