Allele Registry

Canonical Allele Identifier: PA107014

Gene: PRPS1 HGNC NCBI

ClinVar RCV:

RCV000010609

ClinVar Variation:

9931

HGVS (amino-acid)	Matching Registered Transcripts
NP_002755.1:p.Leu129Ile	CA254939 NM_002764.4:c.385C>A