ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826034987
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160160.1:p.Ser180Cys
CA384543433
NM_001166688.2:c.539C>G