Canonical Allele Identifier: PA2826271958
Gene: PRPS1 HGNC NCBI
ClinVar RCV:
RCV000010618
ClinVar Variation:
9940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001191331.1:p.Gly102Arg
CA254949
NM_001204402.2:c.304G>A
CA413816444
NM_001204402.2:c.304G>C