Canonical Allele Identifier: PA2826271961
Gene: PRPS1 HGNC NCBI
ClinVar RCV:
RCV000143860
ClinVar Variation:
140573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001191331.1:p.Val105Phe
CA270662
NM_001204402.2:c.313G>T