ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580484695
Gene: USP30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116052.2:p.Glu500Lys
CA6772167
NM_032663.5:c.1498G>A