ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580173178
Gene: PRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191331.1:p.Pro72Ser
CA413814833
NM_001204402.2:c.214C>T