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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
11
g.5226603G>A
CA472885694
HBB
c.289C>T (p.Leu97=)
n.221C>T
n.340C>T
c.*105C>T (n.*105C>T)
ClinVar
dbSNP
COSMIC
11
g.5226603G>C
CA125126
HBB
c.289C>G (p.Leu97Val)
n.221C>G
n.340C>G
c.*105C>G (n.*105C>G)
ClinVar
dbSNP
Number of alleles fetched
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