ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826034819
Gene: PFKM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160159.1:p.Arg696His
CA6537526
NM_001166687.2:c.2087G>A