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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:
PA1139718664
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
962449
ClinVar RCV Id:
RCV001236303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Ala410Pro
CA379092323
NM_001909.5:c.1228G>C