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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
X
g.139551218G>A
CA121128
F9
c.677G>A (p.Arg226Gln)
n.1344G>A
c.563G>A (p.Arg188Gln)
c.548G>A (p.Arg183Gln)
ClinVar
dbSNP
X
g.139551218G>T
CA414441137
F9
c.677G>T (p.Arg226Leu)
n.1344G>T
c.563G>T (p.Arg188Leu)
c.548G>T (p.Arg183Leu)
dbSNP
COSMIC
Number of alleles fetched
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