ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827930320
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341666.1:p.Thr842Ile
CA6537584
NM_001354737.1:c.2525C>T