ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351620
Gene: PUS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002020.1:p.Arg267Trp
CA351619
NM_001002020.3:c.799C>T