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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.51486852C>A
CA2429220934
dbSNP
X
g.51486852C=
CA2429220933
X
g.51486853T>C
CA1133113940
dbSNP
gnomAD v3
gnomAD v4
X
g.51486853T=
CA2429220935
X
g.51486854T>C
CA2429220937
dbSNP
X
g.51486854T=
CA2429220936
X
g.51486855G>A
CA2500092441
X
g.51486856G>T
CA2553670841
X
g.51486860A=
CA2429220938
X
g.51486860A>G
CA1133113941
dbSNP
gnomAD v3
gnomAD v4
X
g.51486863G>A
CA2429220940
dbSNP
X
g.51486863G=
CA2429220939
X
g.51486863G>T
CA876208960
dbSNP
gnomAD v3
gnomAD v4
X
g.51486867T>G
CA876208962
dbSNP
gnomAD v3
gnomAD v4
X
g.51486867T=
CA2429220942
X
g.51486867_51486868del
CA2508255136
X
g.51486867_51486868delinsTG
CA2429220941
X
g.51486868del
CA329837875
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
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
Number of alleles fetched
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