ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829185016
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004477607
ClinVar Variation:
3187764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376594.1:p.Gln334Arg
CA3059181
NM_001389665.1:c.1001A>G