ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829185178
Gene: USP53
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376596.1:p.Gly501Ser
CA3059256
NM_001389667.1:c.1501G>A