ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825141598
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000280.1:p.Arg47Cys
CA6536894
NM_000289.5:c.139C>T