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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:
PA2827501527
Gene: PIK3CD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132807
ClinVar RCV Id:
RCV000119276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337164.1:p.Glu496Lys
CA156207
NM_001350235.1:c.1486G>A