ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828523151
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2145535
ClinVar RCV Id:
RCV003071485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Met287Thr
CA8291941
NM_001374492.1:c.860T>C