ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106964
Gene: PRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9937
ClinVar RCV Id:
RCV000010615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Gln133Pro
CA340962
NM_002764.4:c.398A>C