ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827934312
Gene: PFKM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255756
ClinVar RCV Id:
RCV000251357
RCV000631186
RCV000675441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341675.1:p.Arg654His
CA6537526
NM_001354746.2:c.1961G>A