ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3080375137
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000280.1:p.Thr669Ile
CA384555738
NM_000289.5:c.2006C>T