ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829184908
Gene: USP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2617322
ClinVar RCV Id:
RCV003374224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376593.1:p.Asn170Ile
CA358030328
NM_001389664.1:c.509A>T