ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828483139
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_001358324.1:p.Ala306Thr
CA358030573
NM_001371395.1:c.916G>A