ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829380019
Gene: PRPS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004269656
ClinVar Variation:
2478700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002756.1:p.Ile252Leu
CA412400816
NM_002765.5:c.754A>C