Allele Registry

Canonical Allele Identifier: PA2825242343

Gene: PUS1 HGNC NCBI

ClinVar RCV:

RCV000002645

RCV001384611

ClinVar Variation:

2536

HGVS (amino-acid)	Matching Registered Transcripts
NP_001002019.1:p.Arg116Trp	CA115605 NM_001002019.3:c.346C>T