Canonical Allele Identifier: PA2827934611
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
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341676.1:p.Gln397Lys
CA6537312
NM_001354747.2:c.1189C>A
CA658797898
NM_001354747.2:c.1188_1189delinsAA