ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827183862
Gene: PFKFB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2283362
ClinVar RCV Id:
RCV004132281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309946.1:p.Tyr250Cys
CA375943023
NM_001323017.1:c.749A>G