ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827933454
Gene: PFKM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
254585
ClinVar RCV:
RCV000251357
RCV000631186
RCV000675441
ClinVar Variation:
255756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341673.1:p.Arg696His
CA6537526
NM_001354744.2:c.2087G>A