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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.12078523T>C
CA2515817235
Y
g.12078528A=
CA2470514532
Y
g.12078528A>T
CA337707810
dbSNP
Y
g.12078529G>T
CA1139190698
gnomAD v3
gnomAD v4
Y
g.12078536G>A
CA2470514534
dbSNP
Y
g.12078536G=
CA2470514533
Y
g.12078537T>A
CA337707811
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078537T=
CA2470514535
Y
g.12078541A=
CA2470514536
Y
g.12078541A>T
CA337707812
dbSNP
Y
g.12078542T>C
CA2589294223
gnomAD v3
gnomAD v4
Y
g.12078558A=
CA2470514537
Y
g.12078558A>G
CA1139190704
dbSNP
Y
g.12078566G>A
CA337707813
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078566G=
CA2470514538
Y
g.12078567C=
CA2470514539
Y
g.12078567C>T
CA880338555
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078569C>T
CA1139190708
gnomAD v3
gnomAD v4
Y
g.12078578C=
CA2470514540
Y
g.12078578C>G
CA2470514541
dbSNP
Y
g.12078578C>T
CA337707814
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078579G>A
CA1139190711
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078579G=
CA2470514542
Y
g.12078583A>G
CA2739258907
dbSNP
Y
g.12078585T>A
CA1139190712
gnomAD v3
gnomAD v4
Y
g.12078588C>A
CA1139190714
gnomAD v3
gnomAD v4
Y
g.12078590C>T
CA2824875462
Y
g.12078595T>C
CA2567177245
Y
g.12078596T>A
CA337707815
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078596T=
CA2470514543
Y
g.12078597G=
CA2470514544
Y
g.12078597G>T
CA337707816
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078614C>A
CA2541913875
Y
g.12078616C>A
CA2510659738
Y
g.12078619C>G
CA1139190754
gnomAD v3
gnomAD v4
Y
g.12078620T>C
CA2739258909
dbSNP
Y
g.12078621C>A
CA2525245829
Y
g.12078621C>T
CA1139190757
gnomAD v3
gnomAD v4
Number of alleles fetched
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