ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184535
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2305117
ClinVar RCV Id:
RCV002895954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376589.1:p.Leu93Phe
CA3058868
NM_001389660.1:c.277C>T