Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827929472

Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 1159

ClinVar RCV Id: RCV000001218

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341664.1:p.Trp789Cys	CA114809 NM_001354735.1:c.2367G>T CA384555857 NM_001354735.1:c.2367G>C