ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580480096
Gene: PUS3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112597.4:p.Arg193Trp
CA6350488
NM_031307.4:c.577C>T