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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:
PA2742036976
Gene: PPP1CB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2633494
ClinVar RCV Id:
RCV003391588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996759.1:p.Gly24Val
CA346580662
NM_206876.2:c.71G>T