Allele Registry

Canonical Allele Identifier: PA093147

Gene: PUS1 HGNC NCBI

ClinVar RCV:

RCV000002645

RCV001384611

ClinVar Variation:

2536

HGVS (amino-acid)	Matching Registered Transcripts
NP_079491.2:p.Arg144Trp	CA115605 NM_025215.6:c.430C>T