ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826034002
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160158.1:p.Arg118Cys
CA6536894
NM_001166686.2:c.352C>T