ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827930331
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341667.1:p.His2Leu
CA6536747
NM_001354738.1:c.5A>T