×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573223812
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1353716
ClinVar RCV Id:
RCV001863562
RCV003289122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Thr87Met
CA5814244
NM_001909.5:c.260C>T