ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184476
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2589073
ClinVar RCV Id:
RCV003363281
RCV003699070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376588.1:p.Leu485Pro
CA3059173
NM_001389659.1:c.1454T>C