ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828100805
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350548.1:p.Thr740Ile
CA6537584
NM_001363619.2:c.2219C>T