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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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Canonical Allele Identifier:
PA2825502460
Gene: IKBKG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427148
ClinVar RCV Id:
RCV000489030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093327.1:p.Arg254Gln
CA415215784
NM_001099857.2:c.761G>A