ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827934447
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341676.1:p.Ser130Cys
CA384543433
NM_001354747.2:c.389C>G