ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828483737
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2976007
ClinVar RCV Id:
RCV003834093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358327.1:p.Asp482His
CA3059171
NM_001371398.1:c.1444G>C