ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828483279
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065121
ClinVar RCV Id:
RCV003990198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358325.1:p.Val49Asp
CA358022181
NM_001371396.1:c.146T>A