ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106924
Gene: PRPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010606
RCV000622306
RCV001328985
ClinVar Variation:
9928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002755.1:p.Asn114Ser
CA254933
NM_002764.4:c.341A>G