ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106903
Gene: PRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9932
ClinVar RCV Id:
RCV000010610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Ala190Val
CA254941
NM_002764.4:c.569C>T