ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828483476
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
619050
ClinVar RCV Id:
RCV000766148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358326.1:p.Arg58Gln
CA3058833
NM_001371397.1:c.173G>A