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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:
PA2573218142
Gene: CTSC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1395626
ClinVar RCV Id:
RCV001891429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001805.4:p.Leu316Val
CA382022219
NM_001814.6:c.946C>G