Allele Registry

Canonical Allele Identifier: PA916004600

Gene: PRPS1 HGNC NCBI

ClinVar RCV:

RCV000208721

RCV000208743

ClinVar Variation:

223100

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191331.1:p.Gln73Pro	CA352190 NM_001204402.2:c.218A>C