ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827932989
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341672.1:p.Asn685Asp
CA6537520
NM_001354743.2:c.2053A>G