ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229230
Gene: USP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
101078
ClinVar RCV Id:
RCV000087331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269978.1:p.Gln233Lys
CA229229
NM_001283049.1:c.697C>A