ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580433030
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2069011
ClinVar RCV Id:
RCV002975271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061923.2:p.Gln489Leu
CA3059174
NM_019050.3:c.1466A>T