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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
16
g.173581T>C
CA215114
HBA2
c.410T>C (p.Leu137Pro)
c.314T>C (p.Leu105Pro)
n.546T>C
ClinVar
dbSNP
16
g.173581T>G
CA276415519
HBA2
c.410T>G (p.Leu137Arg)
c.314T>G (p.Leu105Arg)
n.546T>G
dbSNP
Number of alleles fetched
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