ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106933
Gene: PRPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010607
RCV003147280
ClinVar Variation:
9929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Asp183His
CA254935
NM_002764.4:c.547G>C