ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828483323
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_001358325.1:p.Ser185Phe
CA3058946
NM_001371396.1:c.554C>T