ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580484689
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_116052.2:p.Thr207Lys
CA386454943
NM_032663.5:c.620C>A