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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
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.106444495C>G
CA386391207
POLR3B
c.1988C>G (p.Thr663Ser)
c.1814C>G (p.Thr605Ser)
dbSNP
gnomAD v4
12
g.106444495C>T
CA351312
POLR3B
c.1988C>T (p.Thr663Ile)
c.1814C>T (p.Thr605Ile)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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