ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107005
Gene: PRPS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000010619
ClinVar Variation:
9941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Ile290Thr
CA254951
NM_002764.4:c.869T>C