ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184345
Gene: USP53
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376587.1:p.Pro242Leu
CA358029784
NM_001389658.1:c.725C>T