ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004602
Gene: PRPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010619
ClinVar Variation:
9941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191331.1:p.Ile86Thr
CA254951
NM_001204402.2:c.257T>C