ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826866051
Gene: USP30
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004120397
ClinVar Variation:
2264130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288104.1:p.Thr176Lys
CA386454943
NM_001301175.2:c.527C>A