ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322894
Gene: PUS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.Arg274Gln
CA322892
NM_025215.6:c.821G>A