ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580480095
Gene: PUS3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112597.4:p.Arg173Cys
CA6350501
NM_031307.4:c.517C>T