ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829184571
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2976007
ClinVar RCV Id:
RCV003834093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376589.1:p.Asp432His
CA3059171
NM_001389660.1:c.1294G>C