ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826866059
Gene: USP30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288104.1:p.Thr304Met
CA6772031
NM_001301175.2:c.911C>T