ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828523179
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422148
ClinVar RCV Id:
RCV000479734
RCV000675105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Gln315Arg
CA16620398
NM_001374492.1:c.944A>G