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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:
PA2580260984
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1923607
ClinVar RCV Id:
RCV002604778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Leu412Phe
CA379092312
NM_001909.5:c.1234C>T