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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:
PA645464236
Gene: PLCG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432319
ClinVar RCV Id:
RCV000497427
RCV001047902
RCV002481583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002652.2:p.Thr168Ala
CA8193249
NM_002661.5:c.502A>G