Canonical Allele Identifier: PA270664
Gene: PRPS1 HGNC NCBI
ClinVar RCV:
RCV000143860
ClinVar Variation:
140573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002755.1:p.Val309Phe
CA270662
NM_002764.4:c.925G>T