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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:
PA2829343522
Gene: CTSC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7296
ClinVar RCV Id:
RCV000007719
RCV003764536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001805.4:p.Trp39Ser
CA118686
NM_001814.6:c.116G>C