Allele Registry

Canonical Allele Identifier: PA107048

Gene: PRPS1 HGNC NCBI

ClinVar RCV:

RCV000208733

ClinVar Variation:

223101

HGVS (amino-acid)	Matching Registered Transcripts
NP_002755.1:p.Ser16Pro	CA352184 NM_002764.4:c.46T>C