Canonical Allele Identifier: PA2827935029
Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 526619
ClinVar RCV Id: RCV000631187 RCV002275121
ClinVar Variation Id: 618271
ClinVar RCV Id: RCV000756472 RCV001079312 RCV003938135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341677.1:p.Gln397Lys
CA6537312
NM_001354748.2:c.1189C>A
CA658797898
NM_001354748.2:c.1188_1189delinsAA