ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184737
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2318909
ClinVar RCV Id:
RCV002915268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376591.1:p.Ala190Thr
CA358030573
NM_001389662.1:c.568G>A