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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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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Search insertion/deletion/indels in registry with partial information
Gene symbol
Transcript (c.) or Amino-acid (p.)
Select one
c.
p.
variation
For example:
123del
123delinsTTGA
123_154del
123_124insTGC
125_126delinsTGC
For example:
Trp54delinsArgLys
Trp54del
Trp54_Lys55delinsArgLys
Switch to substitutions