ClinGen Allele Registry
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Canonical Allele Identifier:
PA106941
Gene: PRPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010608
ClinVar Variation:
9930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Asp52His
CA254937
NM_002764.4:c.154G>C