ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA314313
Gene: CTSD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000862792
RCV001108795
RCV001721192
RCV002314713
ClinVar Variation:
205335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Val52Ile
CA314312
NM_001909.5:c.154G>A