ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184377
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004477607
ClinVar Variation:
3187764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376587.1:p.Gln501Arg
CA3059181
NM_001389658.1:c.1502A>G