ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827931717
Gene: PFKM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001216
ClinVar Variation:
1157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341670.1:p.Arg47Leu
CA114804
NM_001354741.2:c.140G>T