ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184573
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_001376589.1:p.Gln439Leu
CA3059174
NM_001389660.1:c.1316A>T