ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827933831
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341674.1:p.Asp562Ala
CA384554391
NM_001354745.2:c.1685A>C