ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829184446
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1903044
ClinVar RCV Id:
RCV002583395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376588.1:p.Ser185Phe
CA3058946
NM_001389659.1:c.554C>T