ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829928157
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_061923.2:p.Ser185Phe
CA3058946
NM_019050.3:c.554C>T