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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:
PA2828712069
Gene: IKBKG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11457
ClinVar RCV Id:
RCV000024285
RCV001172474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364243.1:p.Asp354Val
CA121479
NM_001377314.1:c.1061A>T