Allele Registry

Canonical Allele Identifier: PA352192

Gene: PRPS1 HGNC NCBI

ClinVar RCV:

RCV000208721

RCV000208743

ClinVar Variation:

223100

HGVS (amino-acid)	Matching Registered Transcripts
NP_002755.1:p.Gln277Pro	CA352190 NM_002764.4:c.830A>C