ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829549118
Gene: PFKFB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2261593
ClinVar RCV Id:
RCV004119848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004557.1:p.Arg274Trp
CA5398346
NM_004566.4:c.820C>T