ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828100409
Gene: PFKM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001213
ClinVar Variation:
1154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350548.1:p.Arg39Pro
CA114800
NM_001363619.2:c.116G>C