Allele Registry

Canonical Allele Identifier: PA2825243074

Gene: PUS1 HGNC NCBI

ClinVar RCV:

RCV002611313

ClinVar Variation:

2187061

HGVS (amino-acid)	Matching Registered Transcripts
NP_001002020.1:p.Arg116Gly	CA387298141 NM_001002020.3:c.346C>G